Molecular Genetic Tests
Achondroplasia/Hypochondroplasia/Thanatophoric dysplasia (FGFR3)
Adenosine Monophosphate Deaminase 1 Deficiency (AMPD1)
Androgen Insensitivity Syndrome, AIS (AR)
Angelman Syndrome
Ashkenazi Jewish Carrier Screening: Tay Sachs Disease, Canavan Disease, Cystic Fibrosis, Gaucher Disease, Familial Dysautonomia, Fanconi Anemia, Fragile X Syndrome
Attention Deficit Hyperactivity Disorder (ADHD) / Autismus: Duplication/Deletion 16p
AZF, Y chromosome microdeletions (AZFa-c)
CADASIL (NOTCH3)
Carnitine Palmitoyltransferase II Deficiency (CPT2)
Charcot-Marie-Tooth Neuropathy Type 1, CMT1A/CMT1B (PMP22, P0)
Charcot-Marie-Tooth Neuropathy Type 2, CMT2
Charcot-Marie-Tooth Neuropathy X, CMTX
Congenitale Aplasie des Vas deferens, CAVD
Cri-du-chat (cat’s cry) Syndrome, 5p minus syndrome
Cystic Fibrosis (CFTR)
Dentatorubral-Pallidoluysian Atrophy, DRPLA
Dystonia, early-onset Primary (DYT1)
Fabry Disease (GLA)
Female Infertility, FMR1-related Premature Ovarian Insufficiency
Fragile X Syndrome (FMR1)
Fragile X-Associated Tremor/Ataxia Syndrome, FXTAS
Friedreich Ataxia, FRDA
Hearing Loss: Connexin 26
Hepatitis C IL28B Genotype
Hereditary Neuropathy with Liability to Pressure Palsies, HNPP (PMP22)
HFE-Associated Hereditary Hemochromatosis
Huntington Disease like (HDL-2; SCA17/HDL4; DRPLA)
Huntington Disease, HD
Hyperkalemic Periodic Paralysis Type 1 (SCN4A)
Hypokalemic Periodic Paralysis (CACNA1S and SCN4A)
Ichthyosis, X-Linked
Male Infertility (Cystic Fibrosis, Y-Microdeletion, POLG, FSHR)
Myotonic Dystrophy, DM1
Myotonic Dystrophy Type 2, PROMM, DM2
Oculopharyngeal Muscular Dystrophy (PABPN1/PABP2 GCN Repeat)
Pantothenate Kinase-associated Neurodegeneration, PKAN (PANK2)
Paternity Testing (legal, prenatal, Immigration DNA Testing)
POLG (DNA Polymerase Subunit Gamma-1 Subunit)
Prader-Willi Syndrome
Preconceptional Carrier Screening for Cystic Fibrosis, Spinal Muscular, Fragile X Syndrome
Rhesus Genotyping, non-invasive from fetal circulating DNA
Spinal Muscular Atrophy (SMN1/SMN2)
Spinocerebellar Ataxias: SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 ( HDL4), DRPLA
Thrombophilia (Prothrombin G20210A, Factor V Leiden Mutation R506Q, MTHFR Mutation C677T)
Uniparental Disomy (UPD7, UPD14, UPD15, UPD16)
Variant Creutzfeld-Jacob Disease (vCJD)
X-Linked Adrenoleukodystrophy(ABCD1)
X-linked bulbar and spinal muscular atrophy/Kennedy disease, XBSMA (AR)
22q11.2 Deletion Syndrome
46,XY disorder of sex development (46,XY DSD) (SRY)