DNA Diagnostic Tests (Listing)
List of DNA Diagnostic Tests
46,XY Disorders of sex development (NR5A1)
Aarskog Scott syndrome (FGD1)
Acute Myeloid (or Myelogenous) Leukemia
Allan-Herndon-Dudley syndrome (SLC16A2)
Alpha-thalassemia/mental retardation syndrome (ATRX)
Angelman syndrome (UBE3A)
Angelman-like syndrome/Christianson type (SLC9A6)
Ashkenazi Jewish panel
Asperger syndrome (GDI1)
Autism (with macrocephaly) (PTEN)
Azoospermia (SYCP3)
Bannayan-Riley-Ruvalcaba syndrome (PTEN)
BCR/ABL (Philadelphia chromosome)
Beals syndrome (FBN2)
Bloom syndrome
Borjesen-Forssman-Lehmann syndrome (PHF6)
Branchio-oculo-facial syndrome (TFAP2A)
BRCA1/2 (3 Ashkenazi Jewish mutations only)
Canavan disease
Cardiofaciocutaneous syndrome
Charcot-Marie-Tooth disease, Types 1B, 2I, 2J (MPZ)
CHARGE syndrome (CHD7)
Chronic Progressive External Ophthalmoplegia (CPEO)
Chudley-Lowry syndrome (ATRX)
Coffin-Lowry syndrome (RSK2/RPS6KA3)
Congenital bilateral absence of vas deferens (CBAVD)
Congenital Contractural Arachnodactyly (FBN2)
Connexin 30 deletion (non-syndromic deafness)
Costello syndrome (HRAS, KRAS, BRAF)
Cowden syndrome (PTEN)
Creatine (transporter) deficiency (SLC6A8)
Cystic fibrosis (CFTR)
Deafness, non syndromic (Cx-30 deletion)
DRPLA
Dysplastic nevus syndrome (CDKN2A)
Ehlers-Danlos syndrome Type IV (COL3A1)
Epilepsy, Female Restricted (PCDH19)
Faciogenital dysplasia (FGD1)
Factor V Leiden
Factor XI deficiency
Familial Adenomatous Polyposis (APC)
Familial Dysautonomia
Familial Mediterranean Fever (MEFV)
Familial Thoracic Aortic Aneurysm (MYH11)
Fanconi anemia Group C
FG syndrome (MED12)
Fragile X syndrome
Gaucher disease
Glyogen storage disease Type 1A
Hemochromatosis
Huntington disease
Infertility (SYCP3)
JAK2
Kearns-Sayre syndrome (KSS)
Kennedy disease (SBMA)
LADD syndrome (FGF10, FGFR2, FGFR3)
Leber Hereditary Optic Neuropathy (LHON)
Leigh syndrome
LEOPARD syndrome(PTPN11, RAF1)
Loeys-Dietz syndrome (TGFβR1, TGFβR2)
Lujan-Fryns syndrome (MED12)
Lynch syndrome/HNPCC (MLH1, MSH2,MSH6, TACSTD1)
Maple Syrup Urine disease 1B
Marfan syndrome (FBN1)
Maternal cell contamination studies
Medium chain acyl-CoA dehydrogenase (MCAD)
Melanoma (Familial Malignant) (CDKN2A)
Mental retardation (dominant) (SYNGAP1)
Methyltetrahydrofolate reductase (MTHFR)
Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS)
Mitochondrial diseases panel
Mucolipidosis type IV
Multiple miscarriages (SYCP3)
MYH Associated Polyposis (MUTYH)
Myoclonic epilepsy with ragged red fibers (MERRF)
Neurofibromatosis type 1 (NF1)
Neurofibromatosis type 1-like syndrome (SPRED1)
Neurofibromatosis type 2 (NF2)
Neuroligin 3/4
Neuropathy w/ ataxia and retinitis pigmentosa (NARP)
Niemann-Pick disease Type A
Noonan syndrome (PTPN11, SOS1, RAF1, KRAS, SHOC2)
OpitzG/BBB syndrome (MID1)
Opitz-Kaveggia syndrome (MED12)
Ovarian insufficiency (NR5A1)
Paraganglioma (SDHD)
Pelizaeus-Merzbacher disease (PLP1)
Pendred syndrome
Phenylketonuria (PAH)
Prader-Willi syndrome
Proteus syndrome (PTEN)
Prothrombin (G20210A)
PTEN Hamartoma Tumor syndromes
Renpenning syndrome (PQBP1)
Rett syndrome (MECP2)
Rett syndrome – atypical (STK9/CDKL5)
Sex-determining region Y (SRY)
Sickle cell anemia
Smith-Fineman-Myers syndrome (ATRX)
Smith-Lemli-Opitz syndrome (DHCR7)
SNP microarray
Sotos syndrome (NSD1)
Spastic paraplegia 2 (PLP1)
Spinal and Bulbar muscular atrophy (Kennedy disease)
Spinocerebellar ataxia (Types 10, 12, 17)
Stickler syndrome Type 1 (COL2A1)
Sutherland Haan syndrome (PQBP1)
Tay-Sachs disease
Thrombophilia panel
Tuberous Sclerosis (TSC1)
Uniparental disomy (chromosomes 7, 14, 15)
von-Hippel-Lindau disease (VHL)
Waardenburg syndrome, types 1-4 (PAX3, MITF, SOX10, EDN3, EDNRB)
Wilson disease (ATP7B)
X-inactivation studies
X-linked lymphoproliferative disease (SH2D1A)
X-linked Mental Retardation Syndromes
X-linked Mental Retardation/Epilepsy Panels
Y-chromosome detection (SRY)
Y-microdeletion studies
Zygosity testing
DNA Banking:
For any genetic disorder, DNA will be extracted from a 10-20cc blood sample and banked frozen or long-term lymphoblastoid lines can be established and kept in liquid-nitrogen.
Paternity Testing:
Samples which can be used include blood, CVS, amniocytes or archived tissue. Cheek swabs can be used for infants.
