| Achondroplasia MIM# 100800 | alpha-thalassemia MIM# 141800 | Angelman Syndrome (AS) Methylation Analysis MIM# 234400 | Angelman Syndrome (AS) Segregation Analysis MIM# 234400 | BCR-ABL Fusion Gene Transcript Detection MIM#151410 | Beckwith-Wiedemann Syndrome with Parents | Beckwith-Wiedemann Syndrome Proband Only | beta-thalassemia MIM# 141900 | Charcot-Marie-Tooth Type 1A MIM# 118220 | Congenital Adrenal Hyperplasia (21-OH deficiency) MIM# 201910 | Cystic Fibrosis (CFTR) MIM# 219700 | Dentatorubral-Pallidoluysian Atrophy (DRPLA) MIM# 125370 | Duchenne/Becker Muscular Dystrophy (Linkage Analysis). MIM# 310200 | Duchenne/Becker Muscular Dystrophy (Deletion Analysis) MIM# 310200 | Factor V (Leiden) MIM# 227400.0001 | Fragile X Syndrome (FMR1) MIM# 309550 | Friedreich's Ataxia (FRDA) MIM# 229300 | Galactosemia (GALT) MIM# 230400 | Hemoglobin C (HbC) MIM# 141900* | Hemophilia A (HEMA) / Factor VIII Deficiency(Direct) MIM# 306700 | Hemophilia A (HEMA) / Factor VIII Deficiency)Linkage analysis. | Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) MIM# 118220 | Huntington's Disease MIM# 143100 | Leber's Hereditary Optic Neuropathy (LHON) MIM# 308900 | Machado-Joseph Disease (MJD/SCA3) MIM# 109150/183085 | Marfan Syndrome (MFS1) MIM# 154700 | Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) MIM# 201450 | Movement Disorder Mutation Screen | Multiple Endocrine Neoplasia Type 2A / Familial Medullary Thyroid Carcinoma MIM# 164761/171400 | Myotonic Dystrophy (DM) MIM# 160900 | Neonatal Hypotonia Panel | Neurofibromatosis Type 1 (NF1) MIM# 162200 | Prader-Willi Syndrome (PWS) (Methylation) MIM# 176270 | Prader-Willi Syndrome (PWS) (Segregation Analysis) MIM# 176270 | Rh Antigen Genotyping MIM# 111680 | Sexing | Sickle Cell Anemia (HbS) MIM# 141900 | Spinobulbar Muscular Atrophy (SBMA; Kennedy's Disease) MIM# 313200 | Spinocerebellar Ataxia Type 1 (SCA I) MIM# 164400 | Spinocerebellar Ataxia Type 2 (SCA 2) MIM# 183090 | Spinocerebellar Ataxia Type 3 (SCA 3) MIM# 183085 | Spinocerebellar Ataxia Type 6 (SCA 6) | Spinocerebellar Ataxia Type 7 (SCA 7) | Spinal Muscular Atrophy Type I, II, III (SMA) - Deletion Analysis MIM# 253300 | Spinal Muscular Atrophy Type I, II, III (SMA) - Linkage analysis MIM# 253300 | Williams Syndrome (WS) Direct MIM# 194050 | Williams Syndrome (WS) Segregation Analysis MIM# 194050 |
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