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 |
| JAK2 (V617F Substitution) |
147796 |
Direct |
| 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 |
| 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 |
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