DNA Diagnostics (Test List)

List of DNA Diagnostic Tests

Aarskog Scott syndrome (FGD1)
Acute Myeloid (or Myelogenous) Leukemia
Allan-Herndon-Dudley syndrome (SLC16A2)
Alpha-thalassemia/intellectual disability syndrome (ATRX)
Angelman syndrome (UBE3A)
Angelman-like syndrome/Christianson type (SLC9A6)
Angelman/Angelman-like syndrome panel
ARX
Ashkenazi Jewish panel
Asperger syndrome (GDI1)
Autism/Autism Spectrum Disorder (53 gene panel)
Autism (with macrocephaly) (PTEN)
Autism/Intellectual Disability/Seizures (ARX, SCN1A)
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
CADASIL (NOTCH3)
Canavan disease
Cardiofaciocutaneous syndrome
Charcot-Marie-Tooth disease, Type 1A/HNPP (PMP22)
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 26
Connexin 30 deletion (nonsyndromic deafness)
Costello syndrome (HRAS, KRAS, BRAF)
Cowden syndrome (PTEN)
Creatine (transporter) deficiency (SLC6A8)
CTRC-Related Hereditary Pancreatitis
Cystic fibrosis (CFTR)
Deafness, nonsyndromic (Cx-30 deletion, Cx-26 sequencing)
Deafness, mitochondrial (A1555G mutation)
DRPLA
Duchenne or Becker Muscular Dystrophy (DMD)
Dysplastic nevus syndrome (CDKN2A)
Ehlers-Danlos syndrome Type I/II (COL5A1, COL5A2)
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)
Fanconi anemia Group C
FG syndrome (MED12)
Fragile X syndrome
Gaucher disease
Glyogen storage disease Type 1A
Hemochromatosis
Huntington disease
Infantile Spasms (ARX, CDKL5, SCN1A)
Infertility (SYCP3)
Intellectual disability (dominant, nonsyndromic) (SYNGAP1)
JAK2
Kabuki syndrome (MLL2)
Kabuki syndrome (KDM6A)
Kallman syndrome (SOX10)
Kearns-Sayre syndrome (KSS)
Kennedy disease (SBMA)
LADD syndrome (FGF10, FGFR2, FGFR3)
Leber Hereditary Optic Neuropathy (LHON)
Leigh syndrome
LEOPARD syndrome(PTPN11, RAF1, BRAF)
Loeys-Dietz syndrome (TGFβR1, TGFβR2, TGFβ2)
Lujan-Fryns syndrome (MED12)
Lynch syndrome/HNPCC (MLH1, MSH2, MSH6, PMS2, TACSTD1)
Maple Syrup Urine disease 1B
Marfan syndrome (FBN1)
Maternal Cell Contamination (MCC) studies
Medium chain acyl-CoA dehydrogenase (MCAD)
Melanoma (Familial Malignant) (CDKN2A)
Methyltetrahydrofolate reductase (MTHFR)
Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS)
Mitochondrial diseases panel
Mowat Wilson syndrome (ZEB2)
Mucolipidosis type IV
Multiple miscarriages (SYCP3)
Multiple Endocrine Neoplasia, type 1 (MEN1)
Multiple Endocrine Neoplasia, type 2 (RET)
Myeloproliferative disease (JAK2, CALR, MPL)
MYH Associated Polyposis (MUTYH)
Myoclonic epilepsy with ragged red fibers (MERRF)
Neurexin 1 (NRXN1)
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, NRAS, SHOC2)
OpitzG/BBB syndrome (MID1)
Opitz-Kaveggia syndrome (MED12)
Ovarian insufficiency (NR5A1)
Paraganglioma-Pheocromocytoma syndromes (SDHB, SDHC, SDHD)
Pelizaeus-Merzbacher disease (PLP1)
Pendred syndrome
Phenylketonuria (PAH)
Pitt Hopkins syndrome (TCF4)
Pitt Hopkins-like syndrome (CNTNAP2)
Prader-Willi syndrome
Proteus syndrome (PTEN)
Prothrombin (G20210A)
PRSS1-Related Hereditary Pancreatitis
PTCHD1
PTEN Hamartoma Tumor syndromes
Renpenning syndrome (PQBP1)
Rett syndrome (MECP2)
Rett syndrome – atypical (STK9/CDKL5)
Rett syndrome – congenital variant form (FOXG1)
Rett syndrome (classic, atypical, and congenital variants) panel
Sex-determining region Y (SRY)
SCN1A
Sickle cell anemia
Smith-Fineman-Myers syndrome (ATRX)
Smith-Lemli-Opitz syndrome (DHCR7)
SNP microarray
Sotos syndrome (NSD1)
Spastic paraplegia 2 (PLP1)
Spermatogenic failure (NR5A1)
Spinal and Bulbar muscular atrophy (Kennedy disease)
Spinal muscular atrophy (SMA)
SPINK1-Related Hereditary Pancreatitis
Spinocerebellar ataxia (Types 1, 2, 3, 6, 7, 8, 10, 12, 17)
Stickler syndrome Type 1 (COL2A1)
Sutherland Haan syndrome (PQBP1)
Tay-Sachs disease
Thoracic Aortic Aneurysms/Dissections (ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFβ2, TGFβR1, TGFβR2)
Thrombophilia panel
Tuberous Sclerosis (TSC1, TSC2)
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 intellectual disability (IL1RAPL1)
X-linked intellectual disability (RAB39B)
X-linked lymphoproliferative disease (SH2D1A)
X-linked Intellectual Disability Syndromes
X-linked Intellectual Disability/Epilepsy Panels
XY Disorders of sex development (NR5A1)
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.