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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 9001:2008.

 

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Type Name / Description Gene Technology Tat Price
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 / Prothrombin 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