Common Carrier Screening Panel
Number of Panel Genes18
The Common carrier screening panel is designed to detect carriers of disorders commonly tested by carrier screening. These disorders are severe, childhood onset disorders with autosomal recessive or X-linked inheritance that have been recommended or suggested by the American College of Obstetrics and Gynecology (ACOG) or the American College of Genetics and Genomics (ACMG) for inclusion on carrier screening panels.
The Common carrier screening panel is designed to detect carriers of disorders commonly tested by carrier screening. These disorders are severe, childhood onset disorders with autosomal recessive or X-linked inheritance that have been recommended or suggested by the American College of Obstetrics and Gynecology (ACOG) or the American College of Genetics and Genomics (ACMG) for inclusion on carrier screening panels. This test will identify individuals who are at risk of having a child with these disorders. The test includes assessment of Fragile X CGG repeat number, SMA copy number and silent carrier risk, and full gene sequencing with large deletion/duplication analysis of the rest of the disorders on the panel. This panel has high sensitivity for individuals of all ethnic backgrounds. This test is intended for pre/post-conception carrier screening and is not intended for diagnostic testing.
| Gene | Disorder | MIM | Inheritance |
| ASPA | Canavan disease | 271900 | AR |
| BCKDHA | Maple syrup urine disease, type Ia | 248600 | AR |
| BLM (RECQL3) | Bloom syndrome | 210900 | AR |
| CFTR | Cystic Fibrosis | 219700 | AR |
| Congenital bilateral absence of vas deferens | 277180 | AR | |
| DMD | Duchenne muscular dystrophy | 310200 | XLR |
| Becker muscular dystrophy | 300376 | XLR | |
| Cardiomyopathy, dilated, 3B | 320045 | XL | |
| ELP1 (IKBKAP) | Familial dysautonomia | 223900 | AR |
| FANCC | Fanconi anemia C | 227645 | AR |
| FMR1 | Fragile X syndrome | 300624 | XL |
| Fragile X tremor/ataxia syndrome | 300623 | XL | |
| Premature ovarian failure 1 | 311360 | XL | |
| GBA | Gaucher disease, type I | 230800 | AR |
| Gaucher disease, type II | 230900 | AR | |
| Gaucher disease, type III | 231000 | AR | |
| Gaucher disease, type IIIC | 231005 | AR | |
| Gaucher disease, perinatal lethal | 608013 | AR | |
| HBA1/HBA2 | Alpha thalassemia | 604131 | AR |
| Hemoglobin H disease | 613978 | AR | |
| Hemoglobin Bart's hydrops fetalis syndrome | 236750 | AR | |
| HBB | Beta thalassemia | 613985 | AR |
| Sickle cell anemia | 603903 | AR | |
| HEXA | Tay-Sachs disease | 272800 | AR |
| MCOLN1 | Mucolipidosis IV | 252650 | AR |
| PAH | Phenylketonuria | 261600 | AR |
| SMN1 | Spinal muscular atrophy 1 | 253300 | AR |
| Spinal muscular atrophy 2A | 253550 | AR | |
| Spinal muscular atrophy 3 | 253400 | AR | |
| Spinal muscular atrophy 4 | 271150 | AR | |
| SMN2 | Modifier of spinal muscular atrophy | 253400 | -- |
| SMPD1 | Niemann-Pick disease, type A | 257200 | AR |
| Niemann-Pick disease, type B | 607616 | AR |
Gene(s)
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
