DNA Diagnostics Test List

Please click on the name of the condition for a description.
Aarskog-Scott syndrome (FGD1)
Acute Myeloid (or Myelogenous) Leukemia (AML)
Allan-Herndon-Dudley syndrome (SLC16A2)
Alpha-thalassemia/intellectual disability syndrome (ATRX)
Amyotrophic Lateral Sclerosis (ALS, Lou Gehrig disease) (C9orf72)
Aneurysm osteoarthritis syndrome (SMAD3, NTM, LOX, MFAP5, SMAD2, TGFß3)
Angelman syndrome (UBE3A)
Angelman-like syndrome/Christianson type (SLC9A6)
Angelman/Angelman-like syndrome panel
Aortic valve disease (NOTCH1)
Ashkenazi Jewish panel (18 genes)
Asperger syndrome (GDI1)
Autism/Autism Spectrum Disorder (ASD) (53 gene panel)
Autism (with macrocephaly) (PTEN)
Autism/Intellectual Disability/Seizures (ARX, SCN1A, CDKL5/STK9)
Azoospermia (SYCP3)
Bannayan-Riley-Ruvalcaba syndrome (PTEN)
Beals syndrome (FBN2)
Bloom syndrome
Borjeson-Forssman-Lehmann syndrome (PHF6)
Branchio-oculo-facial syndrome (TFAP2A)
C9orf72-Related Neurodegenerative Disease
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 Intestinal Pseudo-Obstruction (CIPO) (ACTG2)
Chronic Progressive External Ophthalmoplegia (CPEO)
Chudley-Lowry syndrome (ATRX)
Coffin-Lowry syndrome (RSK2/RPS6KA3)
Congenital bilateral absence of the vas deferens (CBAVD)
Congenital Contractural Arachnodactyly (FBN2)
Congenital Disorder of Glycosylation (PMM2)
CONNECT2 panel: Connective Tissue Disorders DNA Sequencing Chip (47 genes)
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)
Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Developmental Language Disorders (FOXP1, FOXP2)
Duchenne or Becker Muscular Dystrophy (DMD)
Dysplastic nevus syndrome (CDKN2A)
Ehlers-Danlos syndrome Type I/II (COL5A1, COL5A2)
Ehlers-Danlos syndrome Type IV (COL3A1)
Ehlers-Danlos syndrome Type VII (COL1A1, COL1A2)
Ehlers-Danlos variant with periventricular heterotopia (FLNA)
Epilepsy, Female-Restricted (PCDH19)
Faciogenital dysplasia (FGD1)
Factor V Leiden
Factor XI deficiency
Familial Adenomatous Polyposis (APC)
Familial Dysautonomia
Familial Hyperinsulinemia
Familial Mediterranean Fever (MEFV)
Fanconi anemia Group C
FG syndrome (MED12)
Fragile X syndrome
Gaucher disease
Glycogen storage disease Type 1A
Huntington disease
Infantile Spasms (ARX, CDKL5, SCN1A)
Infertility (SYCP3)
Intellectual disability (dominant, nonsyndromic) (SYNGAP1)
Intracranial aneurysm (NTM, TGFBR3)
Joubert disease (TMEM216)
Kabuki syndrome (KMT2D/MLL2)
Kabuki syndrome (KDM6A)
Kearns-Sayre syndrome (KSS)
Kennedy disease (Spinal Bulbar Muscular Atrophy, SBMA)
Lacrimo-Auriculo-Dento-Digital syndrome (LADD) (FGF10, FGFR2, FGFR3)

Language Disorders, developmental (FOXP1, FOXP2)
Leber Hereditary Optic Neuropathy (LHON)
Leigh syndrome
LEOPARD syndrome (PTPN11, RAF1, BRAF)
Lipoamide Dehydrogenase Deficiency (DLD)
Loeys-Dietz syndrome (TGFβR1, TGFβR2, SMAD2SMAD3, SMAD6, TGFβ2, TGFβ3)
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
Melanoma, Familial Malignant (CDKN2A)
Methyltetrahydrofolate reductase (MTHFR)
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
Mitochondrial Diseases Panel (37 genes)
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)
Nemaline Myopathy (NEB)
Neurexin 1 (NRXN1)
Neurofibromatosis type 1 (NF1)
Neurofibromatosis type 1-like syndrome (SPRED1)
Neurofibromatosis type 2 (NF2)
Neuroligin 3/4
Neuropathy with Ataxia and Retinitis Pigmentosa (NARP)
Niemann-Pick disease Type A
Noonan syndrome (PTPN11, SOS1, SOS2, RAF1, KRAS, NRAS, SHOC2, BRAF, CBL, RIT1, LZTR1)
OpitzG/BBB syndrome (MID1)
Opitz-Kaveggia syndrome (MED12)
Osteogenesis imperfecta Type I, II, III, IV (COL1A1, COL1A2)
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
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)
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 (SBMA, 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 I (COL2A1)
Stickler syndrome Type II (COL11A1)
Stickler syndrome Type III (COL11A2)
Sutherland Haan syndrome (PQBP1)
Tay-Sachs disease
Thoracic Aortic Aneurysms/Dissections (ACTA2, FBN1, MYH11, MYLK, NTM, PRKG1, SMAD3, SMAD6, TGFβ2, TGFβR1, TGFβR2)
Thrombophilia panel
Tuberous Sclerosis (TSC1, TSC2)
Uniparental Disomy (chromosomes 7, 14, 15)
Usher syndrome Type 1F (PCDH15)
Usher syndrome Type 3A (CLRN1)
Visceral Myopathy (ACTG2)
von-Hippel-Lindau disease (VHL)
Waardenburg syndrome, types 1-4 (PAX3, MITF, SOX10, EDN3, EDNRB)
Walker-Warburg syndrome (FKTN)
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