073-2126155
THE LEADER IN MOLECULAR DIAGNOSTICS

Pronto Genetic Tests

ProntoLabTM provides clinical molecular diagnostics services and research services including:

  • DNA sequencing of almost any gene
  • Next Generation Sequencing
  • Fragment analysis
  • Identification of unknown genetic polymorphisms
  • Pharmacogenetic testing
  • Epigenetics

Pronto Diagnostic’s clinical molecular diagnostic service laboratory, ProntoLabTM, has accreditation from the Israel Ministry of Health as well as the ISO 9001:2008 certification for Developing and Marketing of Molecular Diagnostic Products and Services.

  • CES – Clinical Exome -based panels – based on a sequencing kit of approximately 4,900 genes known to be associated with humane diseases and enables personalized genetic diagnosis. The test enables the identification of point mutations (SNV) and large deletion\duplication analysis (CNV).
  • TWIST-based panels – TWIST’s advanced and innovative exome sequencing technology – an expanded and comprehensive genetic test in which the whole exome is sequenced (over 20,000 genes). These panels do not include large deletion\duplication analysis (CNV).
  • Asterisk-marked genes are not included in CES.

 

 

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Type Name / Description Gene Technology Tat Price
Gene Sequencing Almost Any Gene - Sequencing of almost any gene Almost Any Gene Sanger Sequencing 4-8 weeks
NGS Gene Panel Acral Peeling Skin & Epidermolysis Bullosa ATP2C1, CD151, CDSN, CHST8, CO ...
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8 Weeks
NGS Gene Panel Abnormal Genitalia/ Disorders of Sex Development AMH, AMHR2, ANOS1, AR, ARX, AT ...
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TWIST or CES 8 Weeks
NGS Gene Panel Adams-Oliver Syndrome ARHGAP31, DLL4, DOCK6, EOGT, K ...
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TWIST 8 Weeks
NGS Gene Panel Albinism AP3B1, BLOC1S3, BLOC1S6, DTNBP ...
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TWIST or CES 8 Weeks
NGS Gene Panel ALS ALS2, ANG, ATL1, BSCL2, CHCHD1 ...
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TWIST 8 Weeks
NGS Gene Panel Anemia ABCB7, ADAMTS13, AK1, ALAS2, A ...
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TWIST 8 Weeks
NGS Gene Panel Aorta ABCC6, ABL1, ACTA2, ADAMTS10, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Aortopathy ACTA2 , CBS , COL3A1, COL5A1, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Arrhythmia ABCC9, ACTN2, AKAP9, ANK2, BAG ...
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TWIST 8 Weeks
NGS Gene Panel Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) ACTN2, BAG3, CDH2, CTNNA3, DES ...
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TWIST 8 Weeks
NGS Gene Panel Arthrogryposis ACTA1, ADGRG6, AGRN, BIN1, CAC ...
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TWIST 8 Weeks
NGS Gene Panel Ataxia ABCB7, ABHD12, ACO2, ADCK3, AD ...
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TWIST 8 Weeks
NGS Gene Panel Atypical Hemolytic uremic syndrome (aHUS) ADAMTS13, APLN, C3, CD46, CD59 ...
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TWIST 8 Weeks
NGS Gene Panel Autoimmunity ACP5, ADA2*, ADAR, AICDA, AIRE ...
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TWIST or CES 8 Weeks
NGS Gene Panel Autoinflammatory Syndrome ACP5, ADA, ADA2, ADAM17, ADAR, ...
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TWIST 8 Weeks
NGS Gene Panel Bartter Syndrome AP2S1*, ATP6V1B1, BSND, CA2, C ...
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TWIST or CES 8 Weeks
NGS Gene Panel Bone Marrow Failure ACD, ACTB, AK2, ANKRD26, AP3B1 ...
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TWIST 8 Weeks
NGS Gene Panel Brugada CACNA1C, CACNB2, HCN4, KCNH2, ...
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CES 8 Weeks
NGS Gene Panel C3 glomerulopathy C3, CD46, CFB, CFH, CFHR1, CFH ...
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TWIST 8 Weeks
NGS Gene Panel Cadasil ABCC6, ABO, ACTA2, ADA2*, CACN ...
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TWIST or CES 8 Weeks
NGS Gene Panel CAKUT ACE, ACTA2, ACTG2, AGT, AGTR1, ...
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TWIST 8 Weeks
NGS Gene Panel Cancer - Comprehensive AIP, ALK, APC, ATM, AXIN2, BAP ...
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CES 8 Weeks
NGS Gene Panel Cardiomyopathy AARS2, ABCC6, ABCC9, ACAD9, AC ...
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TWIST 8 Weeks
NGS Gene Panel Cataract ABCB6, ADAMTS18, ADAMTSL4, AGK ...
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TWIST or CES 8 Weeks
NGS Gene Panel Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) ANK2, CALM1, CALM2, CALM3, CAS ...
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TWIST 8 Weeks
NGS Gene Panel Cholestasis ABCB11, ABCB4, ABCC2, AKR1D1, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Chronic Progressive External Ophthalmoplegia (CPEO) DGUOK, DNA2*, MGME1*, OPA1, PO ...
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TWIST or CES 8 Weeks
NGS Gene Panel Ciliopathy ACVR2B, AHI1, ALMS1, ANKS6, AR ...
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TWIST 8 Weeks
NGS Gene Panel CMT-Comprehensive SEPTIN9, AARS, AGTPBP1, AIFM1, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Coloboma ABCB6, ADAMTS18, ALDH1A3, BCOR ...
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TWIST 8 Weeks
NGS Gene Panel Combined Pituitary Hormone Deficiency (CPHD) GHR, GLI2, HESX1, LHX3, LHX4, ...
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CES 8 Weeks
NGS Gene Panel Comprehensive Growth Disorders & Skeletal Dysplasias ACAN, ACP5, ACTB, ACTG1, ACVR1 ...
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TWIST 8 Weeks
NGS Gene Panel Comprehensive Hearing Loss and Deafness Panel ABHD12, ACTG1, ADGRV1, AIFM1, ...
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CES 8 Weeks
NGS Gene Panel Comprehensive Muscular Dystrophy and Myopathy Panel ACAD9, ACADL, ACADM, ACADVL, A ...
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TWIST 8 Weeks
NGS Gene Panel Cone Rod Dystrophy ABCA4, ADAM9, ADAMTS18, AIPL1, ...
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TWIST 8 Weeks
NGS Gene Panel Congenital Adrenal Hyperplasia (CAH) ARMC5, CYP11A1, CYP11B1, CYP11 ...
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TWIST 8 Weeks
NGS Gene Panel Congenital Diarrhea ADAM17, ALPI, CYP27A1, DGAT1, ...
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TWIST 8 Weeks
NGS Gene Panel Congenital Hepatic Fibrosis AHI1, ANKS6, ARL13B, ARL6, B9D ...
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TWIST or CES 8 Weeks
NGS Gene Panel Congenital Hypopituitarism ARNT2*, DMXL2*, FGF8, FGFR1, G ...
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TWIST or CES 8 Weeks
NGS Gene Panel Congenital Myasthenic Syndromes (CMS) AGRN, ALG14, ALG2, CHAT, CHRNA ...
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TWIST 8 Weeks
NGS Gene Panel Connective Tissue ABCC6, ACTA2, ACVR1, ADAMTS2, ...
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TWIST 8 Weeks
NGS Gene Panel Cornelia de Lange AFF4, ANKRD11, HDAC8, KMT2A, N ...
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TWIST 8 Weeks
NGS Gene Panel Cystic Kidney Disease ALG8, ANKS6, BICC1, CEP164, CE ...
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TWIST 8 Weeks
NGS Gene Panel Comprehensive Monogenic Diabetes ABCC8, APPL1*, BLK, CEL, EIF2A ...
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TWIST or CES 8 Weeks
NGS Gene Panel Dystonia ADAR, ADCY5, AFG3L2, ANO3, APT ...
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TWIST 8 Weeks
NGS Gene Panel Ectodermal Dysplasia BCS1L, CDH3, DSP, EDA, EDAR, E ...
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TWIST 8 Weeks
NGS Gene Panel Ectopia Lentis AASS, ADAMTS10, ADAMTS17, ADAM ...
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TWIST or CES 8 Weeks
NGS Gene Panel Ehlers Danlos ABCC6, ADAMTS2, ALDH18A1, ATP6 ...
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TWIST or CES 8 Weeks
NGS Gene Panel Endocrine Cancer AIP, APC, CDC73, CDKN1B, DICER ...
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TWIST 8 Weeks
NGS Gene Panel Epidermolysis Bullosa ATP2C1, CDSN*, COL17A1, COL7A1 ...
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TWIST or CES 8 Weeks
NGS Gene Panel Epidermolytic Palmoplantar Keratoderma AAGAB, ALOX12B, ALOXE3, AQP5, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Epilepsy - Comprehensive ABAT, ABCA2, ABCD1, ACTL6B, AD ...
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TWIST 8 Weeks
NGS Gene Panel Epileptic Encephalopathy ABAT, ACTL6B, ADAM22, ADAR, AD ...
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TWIST 8 Weeks
NGS Gene Panel Familial Cerebral Small Vessel Disease ABCC6, APP, ATP1A2, CACNA1A, C ...
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CES 8 Weeks
NGS Gene Panel Familial Hemiplegic Migraine (Migraine) ATP1A2, ATP1A3, CACNA1A, COL4A ...
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TWIST or CES 8 Weeks
NGS Gene Panel Familial Hypercholesterolemia ABCA1, ABCG5, ABCG8, ALMS1, AP ...
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TWIST or CES 8 Weeks
NGS Gene Panel Fatty liver and Dyslipidemia ABCA1, ABCA5, ABCA6, ABCA7, AB ...
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TWIST 8 Weeks
NGS Gene Panel Focal Segmental Glomerulosclerosis (FSGS) ACTN4, ALDH1A2, ANLN, APOL1, A ...
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TWIST 8 Weeks
NGS Gene Panel Glaucoma ADAMTS10, ASB10, BEST1, BMP4, ...
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TWIST 8 Weeks
NGS Gene Panel Glycogen Storage Disease - Comprehensive AGL, ALDOA, ENO3*, EPM2A, FBP1 ...
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TWIST or CES 8 Weeks
NGS Gene Panel Hearing Loss and Deafness including USHER ABHD12, ACTG1, ADCY1, ADGRV1, ...
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TWIST 8 Weeks
NGS Gene Panel Hereditary Spherocytosis (HS) ANK1, EPB41, EPB42, RHAG, SLC4 ...
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CES 8 Weeks
NGS Gene Panel Hereditary Hemorrhagic Telangiectasia (HHT) ACVRL1, ENG, EPHB4*, GDF2*, RA ...
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TWIST or CES 8 Weeks
NGS Gene Panel Hirschsprung Disease BDNF, CELSR3*, EDN3, EDNRB, KI ...
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TWIST or CES 8 Weeks
NGS Gene Panel Hyperaldosteronism CACNA1D, CACNA1H, CLCN2, KCNJ5 ...
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CES 8 Weeks
NGS Gene Panel Hypertriglyceridemia APOA5, APOC2 , APOC3 , APOE , ...
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TWIST 8 Weeks
NGS Gene Panel Hypertrophic Cardiomyopathy (HCM) A2ML1, ABCC9, ACAD9, ACADVL, A ...
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TWIST 8 Weeks
NGS Gene Panel Hypoglycemia Hyperinsulinism and Ketone Metabolism ABCC8, ACADM, ACADVL, ACAT1, A ...
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TWIST 8 Weeks
NGS Gene Panel Hypoparathyroidism AIRE, AP2S1*, CASR, CDC73, CDK ...
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TWIST or CES 8 Weeks
NGS Gene Panel Hypothyroidism and Resistance to Thyroid Hormone CASR, DUOX2, DUOXA2, FOXE1, GC ...
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TWIST or CES 8 Weeks
NGS Gene Panel Ichthyosis ABCA12, ABHD5, ALDH3A2, ALOX12 ...
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TWIST or CES 8 Weeks
NGS Gene Panel Inflammatory Bowel Disease ADA, ADAM17, AICDA, BTK, CD3G, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Intestinal Pseudo-Obstruction ACTA2, ACTG2, CHD8, CHRM3, CHR ...
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TWIST 8 Weeks
NGS Gene Panel Kabuki Syndrome CHD7, EYA1, FLNB, IRF6, KDM6A, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Kallmann Syndrome and Hypogonadotropic Hypogonadism (HH) ANOS1 (KAL1), AXL, CCDC141*, C ...
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TWIST or CES 8 Weeks
NGS Gene Panel Leukodystrophy and Leukoencephalopathy ABCD1, ADAR, AIFM1, AIMP1, ALD ...
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TWIST 8 Weeks
NGS Gene Panel Limb Girdle Muscular Dystrophy (LGMD) ACTA1, ANO5, ASAH1, ATP2A1, B3 ...
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TWIST 8 Weeks
NGS Gene Panel Lissencephaly ACTB, ACTG1, ADGRG1, ARX, ATP6 ...
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TWIST 8 Weeks
NGS Gene Panel LQT AKAP9, ANK2, CACNA1C, CALM1, C ...
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TWIST or CES 8 Weeks
NGS Gene Panel Lymphedema A2ML1  , ADAMTS3, BRAF, CALC ...
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TWIST 8 Weeks
NGS Gene Panel Macrocephaly/Overgrowth Syndrome AKT1, AKT2, AKT3, ASPA, ASXL2, ...
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TWIST 8 Weeks
NGS Gene Panel Macular Corneal Dystrophy AGBL1*, CHRDL1, CHST6, COL17A1 ...
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TWIST or CES 8 Weeks
NGS Gene Panel Marfan Syndrome ABL1, ADAMTS10, ADAMTS17, ADAM ...
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TWIST or CES 8 Weeks
NGS Gene Panel Metabolic Myopathy and Rhabdomyolysis ACAD9, ACADL, ACADM, ACADVL, A ...
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TWIST 8 Weeks
NGS Gene Panel Mitochondrial Myopathy - Nuclear DNA POLG1, POLG2, RRM2B, TWNK, DNA ...
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TWIST 8 Weeks
NGS Gene Panel MODY ABCC8, BLK, CEL, GCK, HNF1A, H ...
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CES 8 Weeks
NGS Gene Panel Movement Disorders ADAR, ADCY5, AFG3L2, ANO3, APT ...
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TWIST 8 Weeks
NGS Gene Panel Neonatal Cholestasis ABCB11, ABCB4, ABCC2, ABCD3, A ...
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TWIST 8 Weeks
NGS Gene Panel Nephrolithiasis ADCY10, AGXT, ALPL, APRT, ATP6 ...
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TWIST 8 Weeks
NGS Gene Panel Nephronophthisis AHI1, ANKS6, CC2D2A, CEP164, C ...
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TWIST or CES 8 Weeks
NGS Gene Panel Nephrotic Syndrome ACTN4, ANLN, APOL1, ARHGAP24, ...
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TWIST 8 Weeks
NGS Gene Panel Neurometabolic Disorders ABCD1, ABCD4 , ACAT1 , AGA  ...
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TWIST 8 Weeks
NGS Gene Panel Neuromuscular Disorders ACTA1, AGRN, ALG2, ANO5, ASAH1 ...
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TWIST 8 Weeks
NGS Gene Panel Neuro-Ophthalmology panel including Nystagmus ACO2, AFG3L2, ANTXR1, APTX, AT ...
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TWIST 8 Weeks
NGS Gene Panel Neuropathies AARS, AIFM1, ATL1, ATL3, ATP7A ...
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TWIST 8 Weeks
NGS Gene Panel Non-Syndromic Hearing Loss ACTG1, ADCY*, ATP2B2, BDP1*, B ...
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TWIST or CES 8 Weeks
NGS Gene Panel Noonan ACTB, ACTG1, BRAF, CBL, CCNK*, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Obesity ADCY3, ALMS1, ARL6, BBS1, BBS1 ...
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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 ...
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TWIST 8 Weeks
NGS Gene Panel Pancreatitis - Chronic APOA5, APOC2, CASR, CFTR, CPA1 ...
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TWIST 8 Weeks
NGS Gene Panel Panhypopituitarism GLI2, HESX1, LHX3, LHX4, OTX2, ...
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CES 8 Weeks
NGS Gene Panel Parkinson ATP13A2, ATP1A3, ATP6AP2, ATP7 ...
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TWIST or CES 8 Weeks
NGS Gene Panel Polycystic Kidney ANKS6, BICC1, DNAJB11*, DZIP1L ...
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TWIST or CES 8 Weeks
NGS Gene Panel Polydactyly - Comprehensive AHI1, AKT3, ALX3, ALX4, ARHGAP ...
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TWIST 8 Weeks
NGS Gene Panel Porokeratosis FDPS, MVK, PMVK, MVD TWIST 8 Weeks
NGS Gene Panel Premature ovarian failure BMP15, CYP17A1*, CYP19A1, FOXL ...
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TWIST or CES 8 Weeks
NGS Gene Panel Primary Ciliary Dyskinesia (PCD) ARHGEF1, ARMC4, C11ORF70, CCDC ...
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TWIST 8 Weeks
NGS Gene Panel Primary Immunodeficiency ACD, ACP5, ACTB, ADA, ADAM17, ...
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TWIST 8 Weeks
NGS Gene Panel Pseudohypoaldosteronism CUL3, HSD11B2, KCNJ5, KLHL3, N ...
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CES 8 Weeks
NGS Gene Panel Pulmonary Artery Hypertension (PAH) ABCC8, ACVRL1, AQP1, ATP13A3, ...
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TWIST 8 Weeks
NGS Gene Panel Pyruvate Dehydrogenase Deficiency(PDH) DLAT, DLD, LIAS, MPC1, PDHA1, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Rasopathies A2ML1, ACTB, ACTG1, BRAF, CBL, ...
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TWIST 8 Weeks
NGS Gene Panel Renal Malformation ACE, ACTG2, AGT, BMP4, CDC5L, ...
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TWIST 8 Weeks
NGS Gene Panel Renal Tubular Acidosis ATP6V0A4, ATP6V1B1, CA2, SLC4A ...
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TWIST or CES 8 Weeks
NGS Gene Panel Retinal Dystrophy ABCA4, ABCC6, ABHD12, ACO2, AD ...
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TWIST 8 Weeks
NGS Gene Panel Retinal Dystrophy including Nystagmus ABCA4, ABCC6, ABHD12, ACO2, AD ...
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TWIST 8 Weeks
NGS Gene Panel Retinitis Pigmentosa ABCA4, ABHD12, ADGRA3, ADIPOR1 ...
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TWIST 8 Weeks
NGS Gene Panel Retinopathy and Optic Atrophy ABCA4, ABCC6, ABHD12, ACBD5, A ...
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TWIST 8 Weeks
NGS Gene Panel Robinow DVL1, DVL3, ROR2, TWIST1, WNT5 ...
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TWIST 8 Weeks
NGS Gene Panel Septo-Optic Dysplasia (SOD) GLI2, HESX1, OTX2, PAX6, PROP1 ...
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CES 8 Weeks
NGS Gene Panel Skeletal Dysplasia with Abnormal Mineralization ALPL, ANKH, AP2S1, B4GALT7, CA ...
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TWIST 8 Weeks
NGS Gene Panel Skeletal Dysplasias Core ACAN, ACP5, ADAMTS10, ADAMTSL2 ...
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TWIST 8 Weeks
NGS Gene Panel Spherocytosis ANK1, EPB41, EPB42, RHAG, SLC4 ...
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CES 8 Weeks
NGS Gene Panel Spondylocostal Dysostosis AGPS, ALPL, ARSE, BMP1, CEP120 ...
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TWIST 8 Weeks
NGS Gene Panel Stargardt ABCA4, CNGB3, ELOVL4, PROM1, P ...
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CES 8 Weeks
NGS Gene Panel Stickler ACTA2, ADAMTS2, ALDH18A1, ATP6 ...
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TWIST or CES 8 Weeks
NGS Gene Panel Thrombocytopenia ABCG5, ABCG8, ACTN1, ADAMTS13, ...
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TWIST 8 Weeks
NGS Gene Panel Treacher Collins DHODH, EFTUD2, EDNRA, POLR1A*, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Usher Syndrome ABHD12, ADGRV1, ARSG*, CDH23, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Vascular Malformations ACVRL1, ANTXR1, BMPR2, CAV1, C ...
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TWIST 8 Weeks
NGS Gene Panel Visceral Myopathy ACTG2, MYH11, ACTA2, FKNA (FLN ...
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TWIST 8 Weeks
NGS Gene Panel Waardenburg Syndrome EDN3, EDNRB, KIT, MITF, PAX3, ...
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CES 8 Weeks
NGS Gene Panel Xeroderma Pigmentosum DDB2, ERCC1, ERCC2, ERCC3, ERC ...
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CES 8 Weeks
NGS Gene Panel Congenital Erythrocytosis / Familial Polycythemia ANK1, BPGM, CALR, EGLN1, EPAS1 ...
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TWIST 8 Weeks
NGS Gene Panel Connective tissue - comprehensive ABCA12, ABCC6, ABHD5, ACAN, AC ...
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TWIST 8 Weeks
NGS Gene Panel Brain Malformations ACTB, ACTG1, ADGRG1, AHI1, AKT ...
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TWIST 8 Weeks
NGS Gene Panel Short stature - Comprehensive ACAN, ACTB, ACTG1, AMMECR1*, A ...
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TWIST or CES 8 Weeks
NGS Gene Panel Male and female infertility ADGRG2, AIRE, AKR1C4, AMH, AMH ...
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8 Weeks
Gene Sequencing BRCA1+2 - Diagnosis of Familial Breast Cancer BRCA1+2 Full Sequencing 3 weeks
Gene Sequencing APC - Diagnosis of Familial Adenomatous Polyposis (FAP) APC Full Sequencing 4-6 weeks
Gene Sequencing CF - Diagnosis of Cystic Fibrosis CF Full Sequencing 3 weeks
Gene Sequencing MSH2 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MSH2 Full Sequencing 4-6 weeks
Gene Sequencing MLH1 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MLH1 Full Sequencing 4-6 weeks
Gene Sequencing MYH - Diagnosis of Familial Adenomatous Polyposis (FAP) MYH Full Sequencing 4-6 weeks
Gene Sequencing MSH6 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MSH6 Full Sequencing 4-6 weeks
Gene Sequencing PMS2 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) PMS2 Full Sequencing 8 weeks
Gene Sequencing CDH1 - Gastric Cancer CDH1 Full Sequencing 4-6 weeks
Gene Sequencing FMF - Hereditary Recurrent Fever FMF Full Sequencing 4-6 weeks
Gene Sequencing TRAPS - Hereditary Recurrent Fever TRAPS Full Sequencing 4-6 weeks
Gene Sequencing MVK - Hereditary Recurrent Fever MVK Full Sequencing 4-6 weeks
Gene Sequencing NLRP3 - Hereditary Recurrent Fever NLRP3 Full Sequencing 4-6 weeks
Gene Sequencing VHL - Von Hippel-Lindau Syndrome VHL Full Sequencing 4-6 weeks
Gene Sequencing DHCR7 - Smith-Lemli-Opitz Syndrome, SLO DHCR7 Full Sequencing 4-6 weeks
Gene Sequencing CFTR - Cystic Fibrosis, CF Congenital Bilateral Absence of Vas Deferens, CBAVD CFTR Full Sequencing 4-6 weeks
Gene Sequencing HBB - Beta Haemoglobinopathia » Beta Thalassemia Sickle Cell Anemia HBB Full Sequencing 4-6 weeks
Gene Sequencing PKHD1 - Polycystic Kidney Disease (Autisomal Recessive) , ARPKD PKHD1 Full Sequencing 4-6 weeks
Gene Sequencing MEN1- Multiple Endocrine Neoplasia, Type 1, MEN1 MEN1 Full Sequencing 4-6 weeks
Gene Sequencing NF-1 - Neurofibromatosis, Type 1, NF1 » Von Recklinghausen Disease NF-1 Full Sequencing 4-6 weeks
Gene Sequencing NF-2 - Neurofibromatosis Type 2, NF2 NF-2 Full Sequencing 4-6 weeks
Gene Sequencing TP53 - Li-Fraumeni Syndrome; Osteosarcoma; Breast Cancer, Familial; ;Pediatric Adrenocortical Carcinoma TP53 Full Sequencing 4-6 weeks
Gene Sequencing TSC2 - Tuberous Sclerosis TSC2 Full Sequencing 4-6 weeks
Gene Sequencing STK11 - Peutz-Jeghers Syndrome, PJS » Hamartous Intestinal Polyposis STK11 Full Sequencing 4-6 weeks
Gene Sequencing ATP7A - Menkes Disease; Occipital Horn Syndrome; Spinal Muscular Atrophy, Distal, X-linked 3 ATP7A Full Sequencing 4-6 weeks
Gene Sequencing ATP7B - Wilson Disease ATP7B Full Sequencing 4-6 weeks
Gene Sequencing ZEB2 - Mowat-Wilson Syndrome ZEB2 Full Sequencing 4-6 weeks
Gene Sequencing SMAD4 - Juvenile Polyposis SMAD4 Full Sequencing 4-6 weeks
Gene Sequencing PEX2 - Refsum Disease, Infantile PEX2 Full Sequencing 4-6 weeks
Gene Sequencing PLP1 - Pelizaeus-Merzbacher Disease PLP1 Full Sequencing 4-6 weeks
Gene Sequencing FGF10 - Lacrimoauriculodentodigital Syndrome; LADD FGF10 Full Sequencing 4-6 weeks
Gene Sequencing FGFR2 - Lacrimoauriculodentodigital Syndrome; LADD FGFR2 Full Sequencing 4-6 weeks
Gene Sequencing GH1 - Isolated Growth Hormone Deficiency, Type IA/ Type IB/ Type II ; Kowarski Syndrome GH1 Full Sequencing 4-6 weeks
Gene Sequencing GNAS1 - Osseous Heteroplasia, Progressive; POH GNAS1 Full Sequencing 4-6 weeks
Gene Sequencing IKBKAP - Familial Dysautonomia IKBKAP Full Sequencing 4-6 weeks
Gene Sequencing ALK - Anaplastic Lymphoma ; Lung Cancer Alveolar Cell Carcinoma ALK Full Sequencing 4-6 weeks
Gene Sequencing ACVRL1 - Activin A Receptor, Type II-Like ; Arteriovenous Malformations of the Brain ACVRL1 Full Sequencing 4-6 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 4-6 weeks
Gene Sequencing COL4A5 -Alport Syndrome COL4A5 Full Sequencing 4-6 weeks
Gene Sequencing DMD - Duchenne Muscular Dystrophy DMD Full Sequencing 4-6 weeks
Gene Sequencing ENG - Telangiectasia, Hereditary Hemorrhagig, Type 1 ENG Full Sequencing 4-6 weeks
Gene Sequencing MPZ - Charcot-Marie-Tooth Disease; Dejerine-Sottas Disease; Neuropathy, Congenital Hypomyelinating; Roussy-Levy Syndrome MPZ Full Sequencing 4-6 weeks
Gene Sequencing PARK2 - Adenocarcinoma of Lung, Somatic; Adenocarcinoma, Ovarian, Somatic; Parkinson Disease, Juvenile, Type 2 PARK2 Full Sequencing 4-6 weeks
Gene Sequencing PCDH15 - Deafness, Autosomal Recessive 23; Usher Syndrome, Type 1D/F Digenic; Usher Syndrome, Type 1F PCDH15 Full Sequencing 4-6 weeks
Gene Sequencing TBX5 - Holt-Oram Syndrome TBX5 Full Sequencing 4-6 weeks
Gene Sequencing TFAP2A - Branchiooculofacial Syndrome TFAP2A Full Sequencing 4-6 weeks
Gene Sequencing TCOF1 - Treacher Collins Syndrome 1 TCOF1 Full Sequencing 4-6 weeks
Gene Sequencing ARX - Infantile Spasm; Partingron Syndrome - MRXS1; Lissencephaly with Ambiguous Gentalia; Myoclonic Epilepsy with Mental Retardation and Spasticity; Mental Retardation; X-linked ARX Full Sequencing 4-6 weeks
Gene Sequencing BMPR2 - Primary Pulmonary Hypertension, PPH1 BMPR2 Full Sequencing 4-6 weeks
Gene Sequencing GJB2 - Deafness GJB2 Full Sequencing 4-6 weeks
Gene Sequencing GJB6 - Deafness GJB6 Full Sequencing 4-6 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 4-6 weeks
Gene Sequencing TPMT- Pharmacogenetics TPMT Full Sequencing 4-6 weeks
Pharmacogenetics 5FU - Sequencing - 1 polymorphism - Assessment of 5-Fluorouracil sensitivity DPYD Sequencing 3 working days
Pharmacogenetics 5FU - Sequencing - 5 polymorphisms- Assessment of 5-Fluorouracil sensitivity DPYD Sequencing 5 working days
Pharmacogenetics ClopidoRisk - Assessment of Clopidogrel (Plavix) responsiveness CYP2C19 / ABCB1 ELISA-based SNP Detection 10 working days
Pharmacogenetics IrinoRisk - Assessment of Irinotecan toxicity UGT1A1 Fragment Analysis 3 working days
Pharmacogenetics TamoxiRisk - Assessment of Tamoxifen responsiveness CYP2D6 Sequencing 10 working days
Pharmacogenetics ThromboRisk - Predisposition to Thrombosis Factor V / MTHFR / Prothrombi ...
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ELISA-based SNP Detection 10 working days
Pharmacogenetics WarfaRisk - Assist in Warfarin (Coumadin) dosage determination CYP2C9 / VKORC1 ELISA-based SNP Detection 3 working days
Special Tests BRCA1+2 - Ashkenazi - Diagnosis of Familial Breast Cancer - 3 Ashkenazi mutations BRCA1+2 ELISA-based SNP Detection 5 working days
MLPA Tests Y Deletion - Diagnosis of micro-deletions on chromosome Y that may cause fertility problems Various MLPA 10 working days
Special Tests Celiac Disease - Screening for HLA genes that predispose to Celiac Disease HLA DQ2 / DQ8 SSP 10 working days
Special Tests Postnatal Diagnosis - Diagnosis of one known mutation Various Sequencing 10 working days
Special Tests Prenatal Diagnosis - Diagnosis of known mutation/s in one gene Various 10 working days
MLPA Tests BRCA1+2 - deletion/duplication - Diagnosis of Familial Breast Cancer BRCA1+2 MLPA 2-4 weeks
MLPA Tests DMD - deletion/duplication - Diagnosis of Duchenne Muscular Dystrophy (DMD) Dystrophin MLPA 10 working days
MLPA Tests SMA - deletion/duplication - Diagnosis of Spinal Muscular Atrophy (SMA) SMN1 - Exon 7+ 8 MLPA 2 weeks
MLPA Tests FAP - deletion/duplication - Diagnosis of Familial Adenomatous Polyposis (FAP) APC / MYH MLPA 10 working days
MLPA Tests HNPCC - deletion/duplication - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MSH6 / PMS2 / MSH2 / MLH1 MLPA 10 working days
MLPA Tests MLPA Prenatal (long gene) - Diagnosis of deletion/duplication of long genes (MRC list) Various MLPA 2 weeks
MLPA Tests MLPA Prenatal (short gene) - Diagnosis of deletion/duplication of short genes (MRC list) Various MLPA 2 weeks
MLPA Tests MLPA other genes (long gene) - Diagnosis of deletion/duplication of long genes (MRC list) Various MLPA 2 weeks
MLPA Tests MLPA other genes (short gene) - Diagnosis of deletion/duplication of short genes (MRC list) Various MLPA 2 weeks
*Next Generation Sequencing - 50X read depth - 90-97% coverage ADME - Pharmacogenetics 242 genes NGS 16 weeks
*Whole Exome Sequencing - 100X read depth - 90-95% coverage Agilent SureSelect Human All Exon V4 (51 Mb) - single DNA sample Various NGS 16 weeks
*Whole Exome Sequencing - 50X read depth - 80-85% coverage Agilent SureSelect Human All Exon V4 (51 Mb) - 50X read depth - single DNA sample Various NGS 16 weeks
*Whole Exome Sequencing - 100X read depth - 90-95% coverage Agilent SureSelect Human All Exon V4 (51 Mb) - TRIAD Various NGS 16 weeks
Whole Exome Sequencing - 50X read depth - 80-85% coverage Agilent SureSelect Human All Exon V4 (51 Mb) - 50X read depth - TRIAD Various NGS 16 weeks
*Next Generation Sequencing - 50X read depth - 90-97% coverage Cancer Genes - Diagnosis of hereditary cancers 142 genes NGS 16 weeks
*Next Generation Sequencing - 50X read depth - 94-97% coverage Chromosome X - Diagnosis of
X-linked hereditary diseases
802 genes NGS 16 weeks
*Next Generation Sequencing - 50X read depth - 90-95% coverage Hereditary Hearing Loss - Diagnosis of hereditary hearing loss 298 genes NGS 16 weeks
*Next Generation Sequencing - 50X read depth - 95-97% coverage HLA Super-locus (3.8Mb) -
HLA-related diseases
Various NGS 16 weeks
*Whole Exome Sequencing - 100X read depth - up to 90% coverage Nimblegen SeqCap EZ Human Exome v2 (44.1 Mb) - single DNA sample Various NGS 16 weeks
*Whole Exome Sequencing - 100X read depth - up to 90% coverage Nimblegen SeqCap EZ Human Exome v2 (44.1 Mb) - TRIAD Various NGS 16 weeks
*Whole Exome Sequencing - 100X read depth - up to 90% coverage Nimblegen SeqCap EZ Human Exome v3.0 (64 Mb) - single DNA sample Various NGS 16 weeks
*Whole Exome Sequencing - 100X read depth - up to 90% coverage Nimblegen SeqCap EZ Human Exome v3.0 (64 Mb) - TRIAD Various NGS 16 weeks