| Type |
Name / Description |
Gene |
Technology |
Tat |
Price |
| NGS Gene Panel |
Abnormal Genitalia/ Disorders of Sex Development
|
AMH, AMHR2, ANOS1, AR, ARX, AT ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
ALS |
ALS2, ANG, ATL1, BSCL2, CHCHD1 ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Adams-Oliver Syndrome
|
ARHGAP31, DLL4, DOCK6, EOGT, K ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Albinism
|
AP3B1, AP3D1, BLOC1S3, BLOC1S6 ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Anemia
|
ABCB7, ADAMTS13, AK1, ALAS2, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Aorta |
ABCC6, ABL1, ACTA2, ADAMTS10, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Aortopathy
|
ACTA2 , CBS , COL3A1, COL5A1, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Arrhythmia
|
ABCC9, ACTN2, AKAP9, ANK2, BAG ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
|
ACTN2, BAG3, CDH2, CTNNA3, DES ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Arthrogryposis
|
ACTA1, ADGRG6, AGRN, BIN1, CAC ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Ataxia
|
AARS2, ABCA2, ABCB7, ABCD1, AB ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Atypical Hemolytic uremic syndrome (aHUS)
|
ADAMTS13, APLN*, C3, CD46, CD5 ...View more |
TWIST/CES
|
8 Weeks |
|
| NGS Gene Panel |
Autoimmunity
|
ACP5, ADA2, ADAR, AICDA, AIRE, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Autoinflammatory Syndrome
|
ACP5, ADA, ADA2, ADAM17, ADAR, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Bartter Syndrome
|
AP2S1*, ATP6V1B1, BSND, CA2, C ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Bone Marrow Failure
|
ACD, ACTB, AK2, ANKRD26, AP3B1 ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Brugada |
CACNA1C, CACNB2, HCN4, KCNH2, ...View more |
CES |
8 Weeks |
|
| NGS Gene Panel |
C3 glomerulopathy
|
C3, CD46, CFB, CFH, CFHR1, CFH ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cadasil
|
ABCC6, ABO, ACTA2, ADA2*, CACN ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
CAKUT
|
ACE, ACTA2, ACTG2, AGT, AGTR1, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cancer - Comprehensive
|
AIP, ALK, APC, ATM, AXIN2, BAP ...View more |
CES |
8 Weeks |
|
| NGS Gene Panel |
Cardiomyopathy
|
AARS2, A2ML1, ABCC6, ABCC9, AC ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cataract |
ABCB6, ABCA3, ABHD12, ADAMTS18 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
|
ANK2, CALM1, CALM2, CALM3, CAS ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cerebellar Ataxia
|
APTX, COQ2, COQ8A, COQ9, DNMT1 ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cholestasis
|
ABCB11, ABCB4, ABCC2, AKR1D1, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Chronic Progressive External Ophthalmoplegia (CPEO)
|
DGUOK, DNA2*, MGME1*, OPA1, PO ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Coloboma
|
ABCB6, ADAMTS18, ALDH1A3, BCOR ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Combined Pituitary Hormone Deficiency (CPHD)
|
GHR, GLI2, HESX1, LHX3, LHX4, ...View more |
CES |
8 Weeks |
|
| NGS Gene Panel |
Comprehensive Growth Disorders & Skeletal Dysplasias
|
ACAN, ACP5, ACTB, ACTG1, ACVR1 ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Comprehensive Hearing Loss and Deafness |
ABHD12, ABHD5, ACOX1, ACTB, AC ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Comprehensive Muscular Dystrophy and Myopathy |
ACAD9, ACADL, ACADM, ACADVL, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cone Rod Dystrophy
|
ABCA4, ADAM9, ADAMTS18, AIPL1, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Congenital Adrenal Hyperplasia (CAH)
|
ARMC5, CYP11A1, CYP11B1, CYP11 ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Congenital Diarrhea
|
ADA, ADAM17, AICDA, ALG6, ALPI ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Ciliopathy
|
ACVR2B, ADAMTS9, AHI1, AK7, AL ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Congenital Hepatic Fibrosis
|
AHI1, ANKS6, ARL13B, ARL6, B9D ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Congenital Hypopituitarism
|
ARNT2*, DMXL2*, FGF8, FGFR1, G ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Congenital Myasthenic Syndromes (CMS)
|
AGRN, ALG14, ALG2, CHAT, CHRNA ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Connective Tissue
|
ABCC6, ABL1, ACTA2, ACVR1, ADA ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Cornelia de Lange
|
AFF4, ANKRD11, HDAC8, KMT2A, N ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cystic Kidney Disease
|
ALG5, ALG8, ALG9, ANKS6, BICC1 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Diabetes - Monogenic - Comprehensive
|
ABCC8, APPL1*, BLK, CEL, EIF2A ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Dystonia
|
ADAR, ADCY5, AFG3L2, ANO3, APT ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Ectodermal Dysplasia
|
TSPEAR ,BCS1L, CDH3, DSP, EDA, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Ectopia Lentis
|
AASS, ADAMTS10, ADAMTS17, ADAM ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Ehlers Danlos Panel
|
ABCC6, ADAMTS2, ALDH18A1, ATP6 ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Endocrine Cancer
|
AIP, APC, CDC73, CDKN1B, DICER ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Epidermolysis Bullosa
|
ATP2C1, CDSN*, COL17A1, COL7A1 ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Epidermolytic Palmoplantar Keratoderma
|
AAGAB, ALOX12B, ALOXE3, AQP5, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Epilepsy - Comprehensive
|
AARS, ABAT, ABCA2, ABCD1, ACTL ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Epileptic Encephalopathy
|
ABAT, ACTL6B, ADAM22, ADAR, AD ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Familial Cerebral Small Vessel Disease
|
ABCC6, APP, ATP1A2, CACNA1A, C ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Familial Hemiplegic Migraine (Migraine)
|
ALDH7A1, ARX, ATP1A2, ATP1A3, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Familial Hypercholesterolemia
|
ABCA1, ABCG5, ABCG8, ALMS1, AP ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Fatty liver and Dyslipidemia
|
ABCA1, ABCA5, ABCA6, ABCA7, AB ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Focal Segmental Glomerulosclerosis (FSGS)
|
ACTN4, ALDH1A2, ANLN, APOL1, A ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Glaucoma
|
ADAMTS10, ASB10, BEST1, BMP4, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Glycogen Storage Disease - Comprehensive
|
AGL, ALDOA, ENO3*, EPM2A, FBP1 ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Hereditary Hemorrhagic Telangiectasia (HHT)
|
ACVRL1, ENG, EPHB4*, GDF2*, RA ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Hirschsprung Disease
|
BDNF, CELSR3*, EDN3, EDNRB, KI ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Hyperaldosteronism
|
CACNA1D, CACNA1H, CLCN2, KCNJ5 ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Hypertriglyceridemia
|
APOA5, APOC2 , APOC3 , APOE , ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Hypertrophic Cardiomyopathy (HCM)
|
ABCC9, ACAD9, ACADVL, ACTA1, A ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Hypoglycemia Hyperinsulinism and Ketone Metabolism
|
AAAS, ABCC8, ABCD1, ACAD9, ACA ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Hypoparathyroidism
|
AIRE, AP2S1*, CASR, CDC73, CDK ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Hypothyroidism and Resistance to Thyroid Hormone
|
CASR, DUOX2, DUOXA2, FOXE1, GC ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Ichthyosis
|
ABCA12, ABHD5, ALDH3A2, ALOX12 ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Inflammatory Bowel Disease
|
ADA, ADAM17, AICDA, BTK, CD3G, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Intestinal Pseudo-Obstruction
|
ACTA2, ACTG2, CHD8, CHRM3, CHR ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Kabuki Syndrome
|
CHD7, EYA1, FLNB, IRF6, KDM6A, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Kallmann Syndrome and Hypogonadotropic Hypogonadism (HH)
|
ANOS1 (KAL1), AXL, CCDC141*, C ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Leukodystrophy and Leukoencephalopathy
|
ABCD1, ADAR, AIFM1, AIMP1, ALD ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Limb Girdle Muscular Dystrophy (LGMD)
|
ACTA1, ANO5, ASAH1, ATP2A1, B3 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Lissencephaly
|
ACTB, ACTG1, ADGRG1, ARX, ATP6 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
LQT
|
AKAP9, ANK2, CACNA1C, CALM1, C ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Lymphedema
|
A2ML1 , ADAMTS3, BRAF, CALC ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Macrocephaly/Overgrowth Syndrome
|
ABCC9, AKT1, AKT2, AKT3, APC2 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Marfan Syndrome
|
ABL1, ADAMTS10, ADAMTS17, ADAM ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Metabolic Myopathy and Rhabdomyolysis
|
ABHD5, ACAD9, ACADL, ACADM, AC ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Mitochondrial Myopathy - Nuclear DNA
|
POLG1, POLG2, RRM2B, TWNK, DNA ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
MODY
|
ABCC8, APPL1*, BLK, CEL, EIF2A ...View more |
CES or TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Movement Disorders
|
ADAR, ADCY5, AFG3L2, ANO3, APT ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Neonatal Cholestasis
|
ABCB11, ABCB4, ABCC2, ABCD3, A ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Nephrolithiasis
|
ADCY10, AGXT, ALPL, APRT, ATP6 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Nephronophthisis
|
AHI1, ANKS6, CC2D2A, CEP164, C ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Nephrotic Syndrome
|
ACTN4, AMN, ANLN, APOL1, ARHGA ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Neurometabolic Disorders
|
ABCD1, ABCD4 , ACAT1 , AGA ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Neuromuscular Disorders
|
ACTA1, AGRN, ALG2, ANO5, ASAH1 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Neuro-Ophthalmology panel including Nystagmus
|
ACO2, AFG3L2, ANTXR1, APTX, AT ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Non-Syndromic Hearing Loss
|
ACTG1, ADCY*, ATP2B2, BDP1*, B ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
RASopathies (Noonan)
|
A2ML1, ACTB, ACTG1, BRAF, CBL, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Obesity
|
ADCY3, AFF4*, ALMS1, ARL6, BBI ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Oculomotor Apraxia
|
APTX, PIK3R5, PNKP, SETX |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Oligodontia - Selective tooth agenesis
|
ANKRD11, ATP6V1B2, AXIN2, BCL1 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Pancreatitis - Chronic
|
APOA5, APOC2, CASR, CFTR, CPA1 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Panhypopituitarism
|
GLI2, HESX1, LHX3, LHX4, OTX2, ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Parkinson
|
ATP13A2, ATP1A3, ATP6AP2, ATP7 ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Polydactyly - Comprehensive
|
AHI1, AKT3, ALX3, ALX4, ARHGAP ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Porokeratosis
|
FDPS, MVK, PMVK, MVD |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Premature ovarian failure
|
BMP15, CYP17A1, CYP19A1, FOXL2 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Primary Ciliary Dyskinesia (PCD)
|
AK7, ARMC4, CCDC103, CCDC114, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Primary Immunodeficiency
|
ACD, ACP5, ACTB, ADA, ADA2, AD ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Pseudohypoaldosteronism
|
CUL3, HSD11B2, KCNJ5, KLHL3, N ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Pulmonary Artery Hypertension (PAH)
|
ABCC8, ACVRL1, AQP1, ATP13A3, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Pyruvate Dehydrogenase Deficiency(PDH)
|
DLAT, DLD, LIAS, MPC1, PDHA1, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Renal Malformation
|
ACE, ACTG2*, AGT, BMP4, CDC5L* ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Renal Tubular Acidosis
|
ATP6V0A4, ATP6V1B1, CA2, SLC4A ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Retinal Dystrophy
|
ABCA4, ABCC6, ABHD12, ACO2, AD ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Retinal Dystrophy including Nystagmus
|
ABCA4, ABCC6, ABHD12, ACBD5, A ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Retinitis Pigmentosa
|
,ABCA4, ABHD12, ADGRBS12, BA3, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Retinopathy and Optic Atrophy
|
ABCA4, ABCC6, ABHD12, ACBD5, A ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Robinow
|
DVL1, DVL3, ROR2, TWIST1, WNT5 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Septo-Optic Dysplasia (SOD)
|
GLI2, HESX1, OTX2, PAX6, PROP1 ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Short stature - Comprehensive
|
ACAN, ACTB, ACTG1, AMMECR1*, A ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Skeletal Dysplasia with Abnormal Mineralization
|
ALPL, ANKH, AP2S1, B4GALT7, CA ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Skeletal Dysplasias Core
|
ACAN, ACP5, ADAMTS10, ADAMTSL2 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Spherocytosis
|
ANK1, EPB41, EPB42, RHAG, SLC4 ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Spondylocostal Dysostosis
|
AGPS, ALPL, ARSE, BMP1, CEP120 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Stargardt
|
ABCA4, CNGB3, ELOVL4, PROM1, P ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Stickler
|
ACTA2, ADAMTS2, ALDH18A1, ATP6 ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Thrombocytopenia
|
ABCG5, ABCG8, ACTN1, ADAMTS13, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Treacher Collins
|
DHODH, EFTUD2, EDNRA, POLR1A*, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Usher syndrome
|
ABHD12, ADGRV1, ARSG*, CDH23, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Vascular Malformations
|
ACVRL1, ANTXR1, BMPR2, CAV1, C ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Visceral Myopathy
|
ACTG2, MYH11, ACTA2, FKNA (FLN ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Waardenburg Syndrome
|
EDN3, EDNRB, KIT, MITF, PAX3, ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Xeroderma Pigmentosum
|
DDB2, ERCC1, ERCC2, ERCC3, ERC ...View more |
CES
|
8 Weeks |
|
| NGS Gene Panel |
Acral Peeling Skin & Epidermolysis Bullosa
|
ATP2C1, CD151, CDSN, CHST8, CO ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Congenital Erythrocytosis / Familial Polycythemia
|
ANK1, BPGM, CALR, EGLN1, EPAS1 ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Brain Malformations
|
ACTB, ACTG1, ADGRG1, AHI1, AKT ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Male and female infertility
|
ADGRG2, AIRE, AKR1C4, AMH, AMH ...View more |
|
8 Weeks |
|
| NGS Gene Panel |
Bronchiectasis
|
AK7, ARHGEF1, CCDC103, CCDC39, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Chorea
|
ADCY5, ARHGEF2, ATM, FRRS1L, F ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Dementia |
ABCA7, ALS2, ANG, APOE, APP, C ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Multiple Meningioma
|
NF2, SMARCB1, SMARCE1, SUFU, B ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Osteogenesis Imperfecta and Bone Fragility. |
AKT3, AMPD2, ANKLE2, AP4M1, AR ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Holoprosencephaly |
CDON ,CENPF*, DHCR7, DISP1, DL ...View more |
TWIST or CES |
8 Weeks |
|
| NGS Gene Panel |
Microcephaly
|
AKT3, AMPD2, ANKLE2, AP4M1, AR ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Hydrocephalus
|
AKT3, AP1S2, CCDC88C, CCND2, C ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Multiple Epiphyseal Dysplasia (MED)
|
CANT1, COL2A1, COL9A1, COL9A2, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Episodic Ataxia
|
CACNB4, FGF14, KCNA1, KCNQ2, S ...View more |
CES/TWIST |
8 Weeks |
|
| NGS Gene Panel |
MELANOMA
|
BAP1, BRCA1, BRCA2, CDK4, CDKN ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Skeletal Dysplasia and Disorders - Comprehensive
|
ACAN, ACP5, ACVR1, ADAMTS10, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Metabolic Newborn Disease |
AAAS, ABCD1, ABCD3, ABCD4, ACA ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Dilated Cardiomyopathy (DCM)
|
ABCC6, ABCC9, ACADVL, ACTA1, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Coagulation Factor Deficiency and Hemophilia
|
F10, F11 ,F12 ,F13A1 ,F2 ,F5 , ...View more |
CES |
8 Weeks |
|
| NGS Gene Panel |
Neuronal Migration Disorder Panel including Periventricular Heterotopia
|
ACTB, ACTG1, ADGRG1, AKT3, ARF ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis (Coloboma)
|
ALX1, ABCB6, ACTB, ADAMTS18, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
HSP-Spastic Paraplegia Panel
|
ABCD1, ADGRB2, AFG3L2, ALDH18A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Bardet-Biedl Syndrome (BBS)
|
ALMS1, ARL6, BBIP1*, BBS1, BBS ...View more |
TWIST or CES |
8 Weeks |
|
| NGS Gene Panel |
Platelet Aggregation Disorders
|
ANO6, AP3B1, ARPC1B*, BLOC1S3* ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Cleft Lip and Palate
|
ACACB, ACBD5, ACSS2, ACTC1, AD ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Corneal Dystrophy (including PPCD (PPMD)
|
AGBL1, CHRDL1, CHST6, COL17A1, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Craniosynostosis
|
ABCC9, ALPL, ALX1, ALX3, ALX4, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
DISTAL Spinal Muscular Atrophy
|
AARS1, ASAH1, ATP7A, BICD2, BS ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Dyslipidemia
|
ABCA1, ABCG5, ABCG8, ALMS1, AN ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Purine and Pyrimidine Metabolism Disorders
|
ADA, ADSL, AMPD1, APRT, ATIC, ...View more |
TWIST or CES |
8 Weeks |
|
| NGS Gene Panel |
Comprehensive Neuromuscular Disorders
|
ABHD5, ACAD9, ACADM, ACADVL, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Macular Dystrophy (Degeneration)
|
ABCA4, BEST1, C1QTNF5, C3, CDH ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Broad Kidney
|
ACTN4, ADCY10, ANLN, ARHGAP24, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Craniofacial Dysostosis
|
ALPL, ALX1, ALX3, ALX4, CHD7, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Hereditary Pediatric Cancer
|
AIP, ALK, ANKRD26, APC, ATM, A ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Hereditary Motor Neuropathy
|
ASAH1, ATP7A, BICD2, BSCL2, CH ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Paraganglioma-Pheochromocytoma
|
FH, MAX, MEN1, NF1, PRKAR1A, R ...View more |
CES |
8 Weeks |
|
| NGS Gene Panel |
Fanconi Anemia
|
ATM, ATR, BLM, BRCA2, BRIP1, C ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Periodic Paralysis
|
ATP1A2, CACNA1S, CLCN1, KCNJ2, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Optic Atrophy
|
ACO2, AFG3L2, ATAD3A, AUH, C12 ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Congenital Heart Disease
|
ABL1, ACTA2, ACTB, ACTC1, ACTG ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cardiology Comprehensive
|
A2ML1, AARS2, ABCC6, ABCC9, AC ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Diabetes Insipidus
|
AQP2, AVP, AVPR2 |
CES |
8 Weeks |
|
| NGS Gene Panel |
Vitreoretinopathy
|
ATOH7, BEST1, CAPN5, COL11A1, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Myopia
|
ARR3, BSG, COL11A1, COL11A2, C ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Early infantile epileptic encephalopathy
|
ABAT, ACTL6B, ADAM22, ADAR, AD ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Thrombocytopenia
|
ABCG5, ABCG8, ACTN1, ADAMTS13, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Familial Lipodystrophy
|
AGPAT2, AKT2, BSCL2, CAV1, CID ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
hyper IgE syndrome
|
CARD11, DOCK8, DSG1, ERBIN, IL ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Lysosomal Storage Disorders
|
ABCC8, ACY1, ADAMTSL2, ADSL, A ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Congenital Hepatic Fibrosis - Comprehensive
|
*ABCB11, ABCB4, ABCC2, ABCG5, ...View more |
TWIST or CES |
8 Weeks |
|
| NGS Gene Panel |
Fatty Acid Oxidation
|
ACAD8, ACAD9, ACADL, ACADM, AC ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Hypercalcemia
|
AP2S1*, ADCY10, AGXT, APRT, AT ...View more |
TWIST or CES |
8 Weeks |
|
| NGS Gene Panel |
Joubert Syndrome
|
AHI1, ARL13B, ARMC9, B9D1, B9D ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Dyskeratosis congenita
|
ACD, CTC1, DKC1, GRHL2, LIG4, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Periodic Fever
|
ADA2, ASAH1, CARD14, ELANE, IL ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Sudden infant death syndrome (SIDS)
|
ABCC9, ACADM, AKAP9, ANK2, CAC ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Porphyria
|
ALAD, ALAS2, CPOX, FECH, HFE, ...View more |
CES |
8 Weeks |
|
| NGS Gene Panel |
Growth Hormone Deficiency
|
BTK, GH1, GHR, GHRHR, GHSR, HE ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Polydactyly / Brachydactyly / Syndactyly
|
BMP2, BMPR1B, CHSY1, DHCR7, ES ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Limb and Digital Malformations
|
ACVR1, ADAMTS10, ADAMTS17, AFF ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Premature aging
|
ACAN, AGPAT2, ALDH18A1, ATR, B ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Renal Tubular Disorders
|
ACE, AGT, AGTR1, AQP2, ATP6V0A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Hereditary hemolytic anemia (HHA)
|
ABCG5, ABCG8, ADA, AK1, ALAS2, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cancer - Comprehensive (TWIST)
|
AIP, ALK, ANKRD26, APC, ATM, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cancer (HPD)
|
APC, ATM, AXIN2, BAP1, BAR ...View more |
|
8 Weeks |
|
| NGS Gene Panel |
Congenital Stationary Night Blindness
|
CABP4, CACNA1F, CACNA2D4, CHM, ...View more |
TWIST or CES
|
8 Weeks |
|
| NGS Gene Panel |
Schwannomatosis |
SMARCB1, LZTR1, NF2 |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Senior Loken Syndrome
|
ANKS6, CEP164, CEP290, CEP83, ...View more |
TWIST
|
8 Weeks |
|
| NGS Gene Panel |
Acidemia Aciduria and Homocystinuria
|
ABCD4, ACADSB, ACAT1, ACSF3, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Peroxisomal Disorders
|
ABCD1, ABCD3, ACOX1, AGPS, AGX ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Polymicrogyria
|
ADGRG1, AKT3, FH, GPSM2, KIF1B ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Hidreadenitis suppurativa
|
NCSTN, PSENEN , PSEN1 |
CES |
8 Weeks |
|
| NGS Gene Panel |
Reticulate hyperpigmentation
|
KRT5, POFUT1, POGLUT1, PSENEN |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Cholestasis
|
ABCB11, ABCB4, ABCC2, ABCD3, A ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Neurodevelopmental Disorders (NDD)
|
ACTB, ACTG1, ADNP, ADSL, AGA, ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Hyperekplexia
|
ARHGEF9, ASNS, ATAD1, CLPB, CT ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Hypotrichosis |
APCDD1, CDH3, CDSN, DSC3, DSG4 ...View more |
TWIST |
8 weeks |
|
| NGS Gene Panel |
CP - Cerebral Palsy |
ABAT,ACADM,ACADVL,ACAT1,ACBD5, ...View more |
TWIST |
8 שבועות |
|
| NGS Gene Panel |
Left Ventricular Non-Compaction Cardiomyopathy (LVNC)
|
ABCC9,ACTC1,ACTN2,BAG3,CTNNA3, ...View more |
TWIST |
8 שבועות |
|
| NGS Gene Panel |
Heterotaxy and Situs Inversus |
ACVR2B, AK7, ANKS6, ARMC4, CCD ...View more |
TWIST |
8 Weeks |
|
| NGS Gene Panel |
Comprehensive Pulmonary disease panel
|
ABCA3,ARHGEF1,C11ORF70,CCDC39, ...View more |
TWIST |
8 שבועות |
|
| NGS Gene Panel |
Hypophosphatemia |
ABCA3,ARHGEF1,C11ORF70,CCDC39, ...View more |
CES |
8 שבועות |
|
| NGS Gene Panel |
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
|
ACTG2,LMOD1,MYH11,MYL9,MYLK |
TWIST |
8 שבועות |
|
| NGS Gene Panel |
Moyamoya
|
ACTA2,GUCY1A1,PCNT,RNF213,ADA2 ...View more |
TWIST |
8 שבועות |
|
| NGS Gene Panel |
Neuropathies inc. CMT |
AARS,AGTPBP1,AIFM1,AMACR,APOA1 ...View more |
TWIST |
8 שבועות |
|
| NGS Gene Panel |
Amelogenesis and Dentinogenesis Imperfecta
|
AARS,AGTPBP1,AIFM1,AMACR,APOA1 ...View more |
TWIST |
8 שבועות |
|
| NGS Gene Panel |
Congenital fibrosis of extraocular muscles (CFEOM) |
CHN1,COL25A1,ECEL1,HOXA1,HOXB1 ...View more |
TWIST |
8 שבועות |
|
| Gene Sequencing |
EDAR - ANHIDROTIC ECTODERMAL DYSPLASIA 3
|
EDAR |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
Almost Any Gene -
Sequencing of almost any gene |
Almost Any Gene |
Sanger Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ABCA4 -
STARGARDT DISEASE, TYPE 1
|
ABCA4 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
ABCC8 -
HYPERINSULINEMIC, HYPOGLYCEMIA, FAMILIAL, TYPE 1
|
ABCC8 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
ABCD1 - Adrenoleukodystrophy |
ABCD1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ACVRL1 - Activin A Receptor, Type II-Like ;
Arteriovenous Malformations of the Brain
|
ACVRL1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ALK - Anaplastic Lymphoma ;
Lung Cancer Alveolar Cell Carcinoma
|
ALK |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
APC -
Diagnosis of Familial Adenomatous Polyposis (FAP) |
APC |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
POLYPOSIS COLI, ADENOMATOUS
|
APC+MYH |
NGS
|
8 weeks |
|
| Gene Sequencing |
-ARSA
(metachromatic leucodystrophy (MLD |
ARSA |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ARSB - MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 |
ARSB |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ARX - X-linked mental retardation and epilepsy |
ARX |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ASPA -
CANAVAN DISEASE
|
ASPA |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
-ASXL1
myelodysplastic syndromes and chronic
Smyelomonocytic leukemia |
ASXL1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ATM - Ataxia Telangiectasia |
ATM |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ATP7A - Menkes Disease;
Occipital Horn Syndrome;
Spinal Muscular Atrophy, Distal, X-linked 3
|
ATP7A |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ATP7B - Wilson Disease |
ATP7B |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
AVP -
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
|
AVP |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
BBS2 -
BARDET-BIEDL SYNDROME TYPE 2, BBS2
|
BBS2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
BCKDHB - MSUD -
MAPLE SYRUP URINE DISEASE
|
BCKDHB - MSUD |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
BMPR1A -
JUVENILE POLYPOSIS SYNDROME
|
BMPR1A |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
BMPR2 - Primary Pulmonary Hypertension, PPH1 |
BMPR2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
BRCA1+2 -
Diagnosis of Familial Breast Cancer |
BRCA1+2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
BRCA1+2 -
Diagnosis of Familial Breast Cancer |
BRCA1/2 |
NGS
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
CAPN3 -
LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A
|
CAPN3 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PARATHYROID CARCINOMA; HYPERPARATHYROIDISM 1/2, HRPT1/2
|
CDC73 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
CDH1 - Gastric Cancer |
CDH1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
CDKN1C -
BECKWITH-WIEDEMANN SYNDROME, BWS
|
CDKN1C |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
CF -
Diagnosis of Cystic Fibrosis |
CF |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
CFTR - Cystic Fibrosis, CF
Congenital Bilateral Absence of Vas Deferens, CBAVD
|
CFTR |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
|
CHAT |
Full Sequencing
|
3 weeks |
|
| Gene Sequencing |
CHARGE SYNDROME
|
CHD7 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
CLCN1 -
MYOTONIA CONGENITA (AUTOSOMAL DOMINANT/RECESSIVE) - THOMSEN DISEASE / BECKER MYOTONIA; MYOTONIA LEVIOR
|
CLCN1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
CLCN5 -
DENT NEPHROCALCINOSIS / NEPHROLITHIASIS (X-LINKED)
|
CLCN5 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
CLRN1 -
USHER SYNDROME, TYPE 3, USH3
|
CLRN1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
COG4 -
Congenital disorder of glycosylation, type iij; Oculocerebrorenal syndrome
|
COG4 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
COG8 -
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2H, CDG2H
|
COG8 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
COL2A1 - Stickler Syndrome, Type I, Nonsyndromic Ocular;
Collagen, Type II, Alpha;
Avascular Necrosis of Femoral Head, Primary;
Legg-Calve-Perthes Disease;
Osteoarthritis Susceptibility
|
COL2A1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
COL3A1 -
EHLERS-DANLOS TYPE 4 EDS4 / FIBROMUSCULAR DYSPLASIA
|
COL3A1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
COL4A5 -Alport Syndrome |
COL4A5 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
COMP - osteochondrodysplasias pseudochondroplasia (PSACH) and multiple
epiphyseal dysplasia (MED).
|
COMP |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
LEBER CONGENITAL AMAUROSIS; RETINITIS PIGMENTOSA, TYPE 12; PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
|
CRB1 |
Full Sequencing
|
3 weeks |
|
| Gene Sequencing |
CREBBP -
RUBINSTEIN-TAYBI SYNDROME
|
CREBBP |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
CYP19A1- either increased or decreased aromatase activity |
CYP19A1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
-CYP1B1
primary congenital glaucoma |
CYP1B1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
|
DARS2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
DHCR7 - Smith-Lemli-Opitz Syndrome, SLO |
DHCR7 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
DLD -
MAPLE SYRUP URINE DISEASE
|
DLD |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
DMD - Duchenne Muscular Dystrophy |
DMD |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
DOK7 -
MYASTHENIA, LIMB-GIRDLE, FAMILIAL
|
DOK7 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
ANHIDROTIC ECTODERMAL DYSPLASIA 3
|
EDAR |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
- EFNB1
CRANIOFRONTONASAL SYNDROME |
EFNB1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ENG - Telangiectasia, Hereditary Hemorrhagig, Type 1 |
ENG |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
EP300-
RUBINSTEIN-TAYBI SYNDROME
|
EP300 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
EXT1 -
MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME
|
EXT1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
EXT2 -
MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME
|
EXT2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
EYA1 -
BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1
|
EYA1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
HAEMOPHILIA A - FACTOR 8
|
F8 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
F11 -
PTA DEFICIENCY
|
F11 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
-FBN1
Marfan syndrome |
FBN1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
FGF10 - Lacrimoauriculodentodigital Syndrome; LADD |
FGF10 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
FGF23 -
HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT)
|
FGF23 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
FGFR2 - Lacrimoauriculodentodigital Syndrome; LADD |
FGFR2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
FLNA -
HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)
|
FLNA |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
FMF - Hereditary Recurrent Fever |
FMF |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
FOXC1 -
RIEGER SYNDROME, TYPE 1, RIEG1; PETERS ANOMALY; IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2
|
FOXC1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
FREM2 - Fraser Syndrome |
FREM2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
G6PC -
GLYCOGEN STORAGE DISEASE, TYPE 1A, GSD1a
|
G6PC |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
|
GAMT |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GAL -
Pain disorder; Normal pressure hydrocephalus
|
GAL |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GALNS -
MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A
|
GALNS |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GBA -
GAUCHER DISEASE, TYPE 1
|
GBA |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GLUTARIC ACIDURIA, TYPE 1
|
GCDH |
Full Sequencing
|
3 weeks |
|
| Gene Sequencing |
GH1 - Isolated Growth Hormone Deficiency, Type IA/ Type IB/ Type II ;
Kowarski Syndrome
|
GH1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
GJB1 -
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX
|
GJB1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GJB2 - Deafness |
GJB2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
GJB6 - Deafness |
GJB6 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
GLA -
FABRY DISEASE
|
GLA |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GLDC -
NONKETOTIC HYPERGLYCINEMIA
|
GLDC |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GNAS1 - Osseous Heteroplasia, Progressive; POH |
GNAS1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
GRIP1 -
Cryptophthalmos; Grip1-related fraser syndrome
|
GRIP1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
HBB - Beta Haemoglobinopathia » Beta Thalassemia
Sickle Cell Anemia
|
HBB |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
HEXA -
TAY-SACHS DISEASE
|
HEXA |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
HLCS -
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
|
HLCS |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
HOXD13 -
Talipes equinovarus; Brachydactyly type d
|
HOXD13 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
HRAS -
COSTELLO SYNDROME
|
HRAS |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PARATHYROID CARCINOMA; HYPERPARATHYROIDISM 1/2, HRPT1/2
|
HRPT2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
IKBKAP - Familial Dysautonomia |
IKBKAP |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
IKBK6 |
IKBK6 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
KCNH2 - long QT syndrome type 2 |
KCNH2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
DIABETES MELLITUS, PERMANENT NEONATAL; NESIDIOBLASTOSIS
|
KCNJ11 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
KCTD7 - progressive myoclonic epilepsy-3 |
KCTD7 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
KHDC3L -
Hydatidiform mole, recurrent
|
KHDC3L |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
KRAS -
CANCERS
|
KRAS |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
L1CAM – Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius; Corpus Callosum Agensis; Crash Syndrome; Familial Spastic Paraplegia 1 |
L1CAM |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
LRP4 -
Syndactyly; Hyperostosis
|
LRP4 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
MED12 - Exons 21,22 - X-linked Opitz-Kaveggia syndrome and Lujan-Fryns syndrome |
MED12 - Exons 21,22 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MEFV - 4 Exons - Mediterranean fever |
MEFV - 4 Exons |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MEN1- Multiple Endocrine Neoplasia, Type 1, MEN1 |
MEN1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MID1 -
OPITZ SYNDROME
|
MID1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
MLH1 -
Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
MLH1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MNX1 - Currarino syndrome |
MNX1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MPZ - Charcot-Marie-Tooth Disease;
Dejerine-Sottas Disease;
Neuropathy, Congenital Hypomyelinating;
Roussy-Levy Syndrome
|
MPZ |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MSH2 -
Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
MSH2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MVK - Hereditary Recurrent Fever |
MVK |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MYH -
Diagnosis of Familial Adenomatous Polyposis (FAP) |
MYH |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MSH6 -
Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
MSH6 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
MYOC -
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1
|
MYOC |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
NF-1 - Neurofibromatosis, Type 1, NF1 » Von Recklinghausen Disease |
NF-1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
NF-2 - Neurofibromatosis Type 2, NF2 |
NF-2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
NIPBL -
CORNELIA DE LANGE SYNDROME
|
NIPBL |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
NLRP3 - Hereditary Recurrent Fever |
NLRP3 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
NLRP7 -
Gestational trophoblastic neoplasm; Hydatidiform mole, recurrent
|
NLRP7 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
NOG - tarsal-carpal coalition syndrome, Proximal Symphalangism, Multiple synostoses syndrome, stapes ankylosis |
NOG |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
NOTCH3 -
CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL
|
NOTCH3 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
NPC1 -
NIEMANN-PICK DISEASE, TYPE C1, NPC1
|
NPC1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
NPHS2 -
NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1
|
NPHS2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
NSD1 -
CEREBRAL GIGANTISM
|
NSD1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
NYX -
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
|
NYX |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
OPA3 -
OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL RECESSIVE) - Costeff
|
OPA3 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PAH -
PHENYLKETONURIA, PKU
|
PAH |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PALB2 - Breast Cancer, Fanconi anemia type N |
PALB2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PARK2 - Adenocarcinoma of Lung, Somatic;
Adenocarcinoma, Ovarian, Somatic;
Parkinson Disease, Juvenile, Type 2
|
PARK2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PAX2 -
RENAL-COLOBOMA SYNDROME
|
PAX2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PAX3 -
WAARDENBURG SYNDROME, TYPE 1, WS1
|
PAX3 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PAX6 -
ANIRIDIA, TYPE 2, AN2; KERATITIS; ECTOPIA PUPILLAE; PETERS ANOMALY; etc.
|
PAX6 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PROPIONIC ACIDEMIA
|
PCCA |
Full Sequencing
|
3 weeks |
|
| Gene Sequencing |
PCDH15 - Deafness, Autosomal Recessive 23;
Usher Syndrome, Type 1D/F Digenic;
Usher Syndrome, Type 1F
|
PCDH15 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PDSS2 -
COENZYME Q10 DEFICIENCY
|
PDSS2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PEX2 - Refsum Disease, Infantile |
PEX2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME
|
PHOX2B |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PITX2 -
RIEGER SYNDROME, TYPE 1, RIEG1; PETERS ANOMALY; IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2
|
PITX2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
PKD1 - autosomal dominant polycystic kidney disease type 1 |
PKD1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PKD2 - autosomal dominant polycystic kidney disease type 2 |
PKD2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PKHD1 - Polycystic Kidney Disease (Autisomal Recessive) , ARPKD |
PKHD1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PLP1 - Pelizaeus-Merzbacher Disease |
PLP1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PMS2 -
Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
PMS2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PRNP - Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler
disease, Huntington disease-like 1
|
PRNP |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PTEN - Bannayn Myhre Riley Ruvalcava Smith Zonana Syndrome, Cowden Disease |
PTEN |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
PYGM -
GLYCOGEN STORAGE DISEASE, TYPE 5
|
PYGM |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
RASA1 -
Arteriovenous malformation; Parkes weber syndrome
|
RASA1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
RB1 -
RETINOBLASTOMA
|
RB1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
HIRSCHSPRUNG DISEASE, TYPE 1; RENAL AGENESIS; MTC; MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2A/B, MEN2A/B
|
RET |
Full Sequencing
|
3 weeks |
|
| Gene Sequencing |
RPE65 -
RETINITIS PIGMENTOSA, TYPE 20, RP20
|
RPE65 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
GEFS+; SEVERE MYOCLONIC EPILEPSY OF INFANCY; ICEGTC; SMEIB
|
SCN1A |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
SCN9A -
ERYTHERMALGIA, PRIMARY; INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE); PAROXYSMAL EXTREME PAIN DISORDER
|
SCN9A |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
SDHB - Paragangliomas and
Pheochromocytoma
|
SDHB |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
SDHD -Hereditary Paraganglioma |
SDHD |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
SEPSECS (PCCA) -
PROPIONIC ACIDEMIA
|
SEPSECS (PCCA) |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
SERPINA1 - emphysema or liver disease |
SERPINA1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
SIX5 -
BRANCHIO-OTO-RENAL SYNDROME, TYPE 2, BOR2
|
SIX5 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
SLC26A3 - Congenital Chloride Diarrhea |
SLC26A3 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
SMAD4 - Juvenile Polyposis |
SMAD4 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
SMARCB1 -
Rhabdoid tumor; Atypical teratoid rhabdoid tumor
|
SMARCB1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
SMPD1 -
NIEMANN-PICK DISEASE, TYPE A & B
|
SMPD1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
SOX10 -
WAARDENBURG-SHAH SYNDROME
|
SOX10 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
STK11 - Peutz-Jeghers Syndrome, PJS » Hamartous Intestinal Polyposis |
STK11 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TBX3 - ulnar-mammary syndrome |
TBX3 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TBX5 - Holt-Oram Syndrome
|
TBX5 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TCOF1 - Treacher Collins Syndrome 1 |
TCOF1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TERC - Autosomal Dominant Dyskeratosis Congenita |
TERC |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TERT - Dyskeratosis Congenita, Idiopathic Pulmonary Fibrosis |
TERT |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TFAP2A - Branchiooculofacial Syndrome |
TFAP2A |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TGFBR1 -
LOEYS-DIETZ SYNDROME
|
TGFBR1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
TGFBR2 -
MARFAN SYNDROME, TYPE 2, MFS2; LOEYS-DIETZ SYNDROME
|
TGFBR2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
THAP1 -
DYSTONIA 6, DYT6
|
THAP1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
TMC1 -
DEAFNESS, DFNA36; DEAFNESS, DFNB7
|
TMC1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
TMEM216 -
Joubert syndrome 2; Meckel syndrome type 2
|
TMEM216 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
TNFRSF1A -
HIBERNIAN FEVER, FAMILIAL
|
TNFRSF1A |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
TP53 - Li-Fraumeni Syndrome;
Osteosarcoma;
Breast Cancer, Familial;
;Pediatric Adrenocortical Carcinoma
|
TP53 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TPMT- Pharmacogenetics |
TPMT |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Seuencing |
TSC1 - Tuberous Sclerosis |
TSC1 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TSC2 - Tuberous Sclerosis |
TSC2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
TSC1+2 -
TUBEROUS SCLEROSIS
|
TSC1+2 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
TRAPS - Hereditary Recurrent Fever |
TRAPS |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ANGELMAN SYNDROME, AS
|
UBE3A |
Full Sequencing
|
3 weeks |
|
| Gene Sequencing |
UMOD -
MEDULLARY CYSTIC KIDNEY DISEASE 2, MCKD2; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ
|
UMOD |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
UPK3A -
Ovarian brenner tumor; Upk3a-related renal adysplasia
|
UPK3A |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
VDR -
VITAMIN D-DEPENDENT RICKETS, TYPE 2A
|
VDR |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
VHL - Von Hippel-Lindau Syndrome |
VHL |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
|
WISP3 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
WT1 -
WILMS TUMOR 1
|
WT1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
ZEB1 -
Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, fuchs endothelial, 6
|
ZEB1 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Gene Sequencing |
ZEB2 - Mowat-Wilson Syndrome |
ZEB2 |
Full Sequencing |
UP TO 6 WEEKS |
|
| Gene Sequencing |
ZIC3 -
HETEROTAXY, VISCERAL (X-LINKED)
|
ZIC3 |
Full Sequencing
|
UP TO 6 WEEKS |
|
| Special Tests |
FMR1 -
FRAGILE X SYNDROME, FRAXA
|
FMR1 |
Asuragen
|
UP TO 6 WEEKS |
|
| Pharmacogenetics |
5FU - Sequencing -
1 polymorphism -
Assessment of
5-Fluorouracil sensitivity |
DPYD |
Sequencing |
UP TO 6 WEEKS |
|
| Pharmacogenetics |
5FU - Sequencing - 5 polymorphisms-
Assessment of
5-Fluorouracil sensitivity |
DPYD |
Sequencing |
UP TO 6 WEEKS |
|
| Pharmacogenetics |
ClopidoRisk -
Assessment of Clopidogrel
(Plavix) responsiveness |
CYP2C19 / ABCB1 |
ELISA-based SNP Detection |
UP TO 6 WEEKS |
|
| Pharmacogenetics |
IrinoRisk -
Assessment of Irinotecan toxicity |
UGT1A1 |
Fragment Analysis |
UP TO 6 WEEKS |
|
| Pharmacogenetics |
TamoxiRisk -
Assessment of Tamoxifen responsiveness |
CYP2D6 |
Sequencing |
UP TO 6 WEEKS |
|
| Pharmacogenetics |
ThromboRisk -
Predisposition to Thrombosis |
Factor V / MTHFR / Prothrombi ...View more |
ELISA-based SNP Detection |
UP TO 6 WEEKS |
|
| Pharmacogenetics |
WarfaRisk -
Assist in Warfarin (Coumadin) dosage determination |
CYP2C9 / VKORC1 |
ELISA-based SNP Detection |
UP TO 6 WEEKS |
|
| Special Tests |
BRCA1+2 - Ashkenazi -
Diagnosis of Familial Breast Cancer - 3 Ashkenazi mutations |
BRCA1+2 |
ELISA-based SNP Detection |
UP TO 6 WEEKS |
|
| MLPA Tests |
Y Deletion -
Diagnosis of micro-deletions on chromosome Y that may cause fertility problems |
Various |
MLPA |
UP TO 6 WEEKS |
|
| Special Tests |
Celiac Disease -
Screening for HLA genes that predispose to Celiac Disease |
HLA DQ2 / DQ8 |
SSP |
UP TO 6 WEEKS |
|
| Special Tests |
Postnatal Diagnosis -
Diagnosis of one known mutation |
Various |
Sequencing |
UP TO 6 WEEKS |
|
| Special Tests |
Prenatal Diagnosis -
Diagnosis of known mutation/s in one gene |
Various |
|
UP TO 6 WEEKS |
|
| MLPA Tests |
BRCA1+2 - deletion/duplication -
Diagnosis of Familial Breast Cancer |
BRCA1+2 |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
DMD - deletion/duplication -
Diagnosis of Duchenne Muscular Dystrophy (DMD) |
Dystrophin |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
SMA - deletion/duplication -
Diagnosis of Spinal Muscular Atrophy (SMA) |
SMN1 - Exon 7+ 8 |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
FAP - deletion/duplication -
Diagnosis of Familial Adenomatous Polyposis (FAP) |
APC / MYH |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
HNPCC - deletion/duplication -
Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) |
MSH6 / PMS2 / MSH2 / MLH1 |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
MLPA Prenatal (long gene) -
Diagnosis of deletion/duplication of long genes (MRC list) |
Various |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
MLPA Prenatal (short gene) -
Diagnosis of deletion/duplication of short genes (MRC list) |
Various |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
MLPA other genes (long gene) -
Diagnosis of deletion/duplication of long genes (MRC list) |
Various |
MLPA |
UP TO 6 WEEKS |
|
| MLPA Tests |
MLPA other genes (short gene) -
Diagnosis of deletion/duplication of short genes (MRC list) |
Various |
MLPA |
UP TO 6 WEEKS |
|
