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Adams-Oliver syndrome (ARHGAP31, DOCK6, RBPJ, EOGT)

Angelman syndrome (UBE3A)

Bartter syndrome Antenatal Type 1 or Type 2 (SLC12A1 or KCNJ1)

Bernard-Soulier syndrome (Giant Platelet) Type B (GP1BB)

Beta-thalassemia (HBB)

Biotinidase deficiency (BTD)

Cardiofaciocutaneous syndrome (BRAF, KRAS, MAP2K1, MAP2K2, SHOC2)

CHARGE syndrome (CHD7)

Cockayne syndrome-A (ERCC8)

Costello syndrome (HRAS)

Cystic Fibrosis (CFTR)

Early Childhood Non-Syndromic Hearing Loss and Deafness (GJB2, GJB6)

Ehlers-Danlos syndrome (CHST14)

Familial Hypercholesterolemia (LDLR)

Galactosemia Type 1 (GALT)

Glutaric Acidemia Type 1 (GCDH)

Hamartoma Tumor syndrome (PTEN)

Hereditary Breast and Ovarian Cancer (BRCA1 or BRCA2)

Hereditary Leiomyomatosis & Renal Cell Cancer HLRCC (FH)

Hereditary Multiple Osteochondromas Type 1 or Type 2 (EXT1 or EXT2)

Hereditary Non-Polyposis Colon Cancer/ Lynch syndrome (MLH1, MSH2, MSH6, EPCAM)

Hereditary and Idiopathic Chronic Pancreatitis (CFTR, CTRC, PRSS1, SPINK1)

Hereditary Papillary Renal Carcinoma (C-MET)

Infantile Epilepsy (CDKL5, KCNQ2, KCNQ3, SCN1A, SCN2A, SLC2A1, STXBP1)

Isovaleric Acidemia (IVD)

Kabuki syndrome (MLL2)

Liddle syndrome (SCNN1B or SCNN1G)

Li-Fraumeni syndrome (TP53)

Marfan syndrome (FBN1)

Marinesco-Sjogren syndrome (SIL1)

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

Malignant Melanoma P16 (CDKN2A)

Maturity onset diabetes of the young (MODY)

MODY1 HNF4A

MODY2 GCK

MODY3 HNF1A

MODY4 PDX1

MODY5 HNF1B

MODY6 NEUROD1

Multiple Endocrine Neoplasia Type 1 and Type 2 ( MEN1 & RET)

Neurofibromatosis (NF1, NF2)

Niemann-Pick disease type C (NPC1 or NPC2)

Noonan syndrome (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF)

Pancreatic Cancer (PALB2)

Paraganglioma genes: SDHB, SDHD, SDHC, SDHAF2, SDHA, MAX

Polyposis of the Colon

MUTYH Associated Polyposis

Familial Adenomatous Polyposis (APC)

Juvenile Polyposis (SMAD4 or BMPR1A)

Renal Tubular Acidosis (ATP6V0A4, ATP6V1B1, SLC4A1, SLC4A4, CA2)

Rett syndrome (MECP2)

Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

Sotos syndrome (NSD1)

SPRED1/Legius syndrome

Transient Myeloproliferative disorder of Down syndrome (GATA1)

Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCAD)

Von Hippel-Lindau syndrome (VHL)

Williams syndrome (ELN)

Wilson disease (ATP7B)

All DNA sequencing tests were developed and their performance determined by the Genetics Laboratory at the University of Oklahoma Health Sciences Center. They have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. These assays are used for clinical purposes.

Information on this web site is provided for informational purposes only and is not a substitute for professional medical advice. You should not use the information on this web site for diagnosing or treating a medical or health condition. If you have or suspect you have a medical problem, promptly contact your professional healthcare provider.

 


Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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