073-2126155
מובילה בדיאגנוסטיקה מולקולרית

בדיקות גנטיות

במעבדת פרונטו דיאגנוסטיקה ניתן לבצע את כל הבדיקות הגנטיות:

  • בדיקת כל גן.
  • שימוש בטכנולוגיה מתקדמת לאיתור חוסרים והכפלות.
  • בדיקות פארמקוגנטיות: התאמה אישית של טיפול תרופתי לפרופיל הגנטי של המטופל.
  • שירותי ריצוף בטכנולוגיית הדור הבא (Next Generation Sequencing) לטיפול במקרים של תסמונות גנטיות מורכבות.
  • אונקוגנטיקה- זיהוי ואיתור גנים ומוטציות האחראים לסרטן כגון: סרטן השד, סרטן המעי הגס ועוד.

המעבדה הדיאגנוסטית- קלינית של חברת פרונטו דיאגנוסטיקה הינה מאושרת על ידי משרד הבריאות הישראלי, כמו גם בעלת תו התקן האירופאי ISO 9001:2015.

  • פאנלים מבוססי אקסום קליני CES  - הבדיקה מבוססת על ערכה לריצוף של כ- 4,900 גנים הידועים כקשורים למחלות הומניות ומאפשרת אבחון גנטי מותאם אישית. הבדיקה מאפשרת זיהוי של מוטציות נקודתיות (SNV) וחסרים והכפלות (CNV).
  • פאנלים מבוססי אקסום TWIST – טכנולוגית ריצוף אקסום מתקדמת וחדשנית של חברת TWIST – בדיקה גנטית מורחבת ומקיפה במסגרתה מרוצף כל האקסום (מעל 20,000 גנים). פאנלים אלו אינם כוללים בדיקת חסרים והכפלות (CNV).
  • הגנים המסומנים בכוכבית אינם כלולים ב-CES.

 

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Type Name / Description Gene Technology Tat Price
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 ALS ALS2, ANG, ATL1, BSCL2, CHCHD1 ...
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TWIST 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 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, CD5 ...
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TWIST/CES 8 Weeks
NGS Gene Panel Autoimmunity ACP5, ADA2, ADAR, AICDA, AIRE, ...
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TWIST 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 Cerebellar Ataxia APTX, COQ2, COQ8A, COQ9, DNMT1 ...
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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 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 ABHD12, ACTG1, ADGRV1, AIFM1, ...
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CES 8 Weeks
NGS Gene Panel Comprehensive Muscular Dystrophy and Myopathy 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 Ciliopathy ACVR2B, ADAMTS9, AHI1, AK7, AL ...
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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, ABL1, ACTA2, ACVR1, ADA ...
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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 Diabetes - Monogenic - Comprehensive 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 Panel 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) ALDH7A1, ARX, ATP1A2, ATP1A3, ...
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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 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 ABCC9, AKT1, AKT2, AKT3, APC2 ...
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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, APPL1*, BLK, CEL, EIF2A ...
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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, AMN, ANLN, APOL1, ARHGA ...
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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) AK7, ARMC4, CCDC103, CCDC114, ...
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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 or CES 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, ACBD5, A ...
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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 Short stature - Comprehensive ACAN, ACTB, ACTG1, AMMECR1*, A ...
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TWIST or 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 Acral Peeling Skin & Epidermolysis Bullosa ATP2C1, CD151, CDSN, CHST8, CO ...
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TWIST 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 Male and female infertility ADGRG2, AIRE, AKR1C4, AMH, AMH ...
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8 Weeks
NGS Gene Panel Bronchiectasis AK7, ARHGEF1, CCDC103, CCDC39, ...
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TWIST 8 Weeks
NGS Gene Panel Chorea ADCY5, ARHGEF2, ATM, FRRS1L, F ...
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TWIST 8 Weeks
NGS Gene Panel Metabolism - Comprehensive ABCC8, ABCD1, ABCD3, ABCD4, AC ...
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TWIST 8 Weeks
NGS Gene Panel Dementia ABCA7, ALS2, ANG, APOE, APP, C ...
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TWIST 8 Weeks
NGS Gene Panel Multiple Meningioma NF2, SMARCB1, SMARCE1, SUFU, B ...
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TWIST 8 Weeks
NGS Gene Panel Osteogenesis Imperfecta and Bone Fragility. ALPL, ANO5, ASCC1, B3GAT3, B4G ...
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TWIST 8 Weeks
NGS Gene Panel Holoprosencephaly CDON ,CENPF*, DHCR7, DISP1, DL ...
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TWIST or CES 8 Weeks
NGS Gene Panel Microcephaly AKT3, AMPD2, ANKLE2, AP4M1, AR ...
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TWIST 8 Weeks
NGS Gene Panel Hydrocephalus AKT3, AP1S2, CCDC88C, CCND2, C ...
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TWIST 8 Weeks
NGS Gene Panel Chronic Kidney Disease - CKD ABCB11, ABCB4, ABCC2, ACE, ACT ...
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TWIST 8 Weeks
NGS Gene Panel Multiple Epiphyseal Dysplasia (MED) CANT1, COL2A1, COL9A1, COL9A2, ...
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TWIST or CES 8 Weeks
NGS Gene Panel Episodic Ataxia CACNB4, FGF14, KCNA1, KCNQ2, S ...
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CES 8 Weeks
NGS Gene Panel MELANOMA BAP1, BRCA1, BRCA2, CDK4, CDKN ...
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TWIST 8 Weeks
NGS Gene Panel Skeletal Dysplasia and Disorders - Comprehensive ACAN, ACP5, ACVR1, ADAMTS10, A ...
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TWIST 8 Weeks
NGS Gene Panel Metabolic Newborn Disease AAAS, ABCD1, ABCD3, ABCD4, ACA ...
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TWIST 8 Weeks
NGS Gene Panel Dilated Cardiomyopathy (DCM) ABCC6, ABCC9, ACADVL, ACTA1, A ...
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TWIST 8 Weeks
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 ...
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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