GENE TESTS

TEST MIM # METHOD
Achondroplasia 100800 Direct, Prenatal
Alpha-thalassemia 141800 Direct, Prenatal
Angelman Syndrome 105830 Direct, Prenatal, Linkage
Apert Syndrome (FGFR 2) 101200 Direct, Prenatal
Apolipoprotein E 107741 Contact CompGene
Beckwith-Wiedemann Syndrome 130650 Direct
Beta-thalassemia 141900 Direct, Prenatal
BCR-ABL Fusion Gene Transcript by QPCR 151410 Direct
Charcot-Marie-Tooth Type 1A 118220 Contact CompGene
Congenital Adrenal Hyperplasia/21-Hydroxylase Deficiency 201910 Direct, Prenatal, Linkage
Crouzon Syndrome (FGFR 2) (FGFR 3) 176943 134934 Direct, Prenatal
Cystic Fibrosis 219700 Direct, Prenatal
Dentatorubral-Pallidoluysian Atrophy/Haw River Syndrome 125370 Direct
Duchenne/Becker Muscular Dystrophy 310200 Direct, Prenatal, Linkage
Factor V (Leiden) 227400 Direct, Prenatal
DNA Banking Not applicable Not applicable
FLT3 (ITD and D835 mutations) 136351 Direct
Fragile X Syndrome 309550 Direct, Prenatal
Friedreich's Ataxia 229300 Direct, Prenatal
Galactosemia 230400 Direct, Prenatal
Hemochromatosis 235200 Direct
Hemoglobin C 141900 Direct, Prenatal
Hemoglobin S 141900 Direct, Prenatal
Hemophilia A (Factor VIII) 306700 Direct, Prenatal, Linkage
Hereditary Neuropathy with Liability to Pressure Palsies 118220 Direct
Huntington's Disease 143100 Direct, Prenatal
Hyperekplexia (GLAR1) 138491 Direct
Hypochondroplasia 146000 Direct, Prenatal
Leber's Hereditary Optic Neuropathy 535000 Direct
Machado-Joseph Disease 109150 Direct
Marfan Syndrome 154700 Linkage
Medium Chain Acyl-CoA Dehydrogenese Deficiency 201450 Direct, Prenatal
Movement Disorder Mutation Screen Not applicable Direct
Muenke Syndrome (FGFR 3) 602849 Direct, Prenatal
Multiple Endocrine Neoplasia (MEN 2A / MEN 2B) Familial Medullary Thyroid Carcinoma 164761 / 171400 / 162300 Direct
Myotonic Dystrophy (DM1) 160900 Direct, Prenatal
Neonatal Hypotonia Screen (PWS, DM1, SMA I) Not applicable Direct
Neurofibromatosis Type 1 162200 Prenatal, Linkage
NPM1 Not applicable Direct
Paternity Testing Not applicable Direct
Polyhydramnios Panel Not applicable Direct, Prenatal
Prader-Willi Syndrome 176270 Direct, Prenatal, Linkage
RET Protooncogene 164761 / 171400 / 162300 Direct
RhD Antigen Typing 111680 Direct, Prenatal
RhC/c Antigen Typing 111700 Direct, Prenatal
Sexing Not applicable Direct, Prenatal
Sickle Cell Anemia 141900 Direct, Prenatal
Spinobulbar Muscular Atrophy / Kennedy's Disease 313200 Direct
The Spinocerebellar Ataxias - General Information Not applicable Not applicable
Spinocerebellar Ataxia Type 1 164400 Contact CompGene
Spinocerebellar Ataxia Type 2 183090 Direct
Spinocerebellar Ataxia Type 3 183085 Direct
Spinocerebellar Ataxia Type 6 183086 Direct
Spinocerebellar Ataxia Type 7 164500 Direct
Spinocerebellar Ataxia Type 8 608768 Direct
Spinocerebellar Ataxia Type 10 603516 Direct
Spinal Muscular Atrophy Types I/II/III 253300 / 253550 / 253400 Direct, Prenatal, Linkage
Thanatophoric Dysplasia Type I and Type II (FGFR 3) 187600 Direct, Prenatal
Transient Neonatal Diabetes (TNDM) 601410 Direct
Williams Syndrome 194050 Direct, Linkage
Zygosity Testing Not applicable Direct, Prenatal