Courtagen Diagnostics Laboratory
(Courtagen Life Sciences)
General information
Courtagen Diagnostics Laboratory
Courtagen Life Sciences
8 Cabot Road
Suite 2000
Woburn
Massachusetts
United States - 01801
http://www.courtagen.com/Organization ID: 320384
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 42
Gene
| Gene | Submissions | Last Updated |
|---|
| ACADM | 1 | May 28, 2015 |
| ADGRG1 | 1 | May 28, 2015 |
| ADSL | 1 | May 28, 2015 |
| ALDH5A1 | 1 | May 28, 2015 |
| ALDH7A1 | 1 | May 28, 2015 |
| ALG13 | 1 | May 28, 2015 |
| ATP1A3 | 1 | May 28, 2015 |
| ATP7B | 1 | May 28, 2015 |
| BCS1L | 2 | May 28, 2015 |
| BRAF | 1 | May 28, 2015 |
| BUB1B | 1 | May 28, 2015 |
| CEP152 | 1 | May 28, 2015 |
| CFTR | 3 | May 28, 2015 |
| CLCN1 | 1 | May 28, 2015 |
| DARS2 | 1 | May 28, 2015 |
| DHCR7 | 1 | May 28, 2015 |
| G6PD | 3 | May 28, 2015 |
| GBA1 | 1 | May 28, 2015 |
| HEXB | 1 | May 28, 2015 |
| LOC106627981 | 1 | May 28, 2015 |
| LOC126861242 | 1 | May 28, 2015 |
| LRRK2 | 1 | May 28, 2015 |
| MAP2K1 | 1 | May 28, 2015 |
| MECP2 | 1 | May 28, 2015 |
| MEF2C | 1 | May 28, 2015 |
| MOGS | 1 | May 28, 2015 |
| NDUFV1 | 1 | May 28, 2015 |
| NPC1 | 1 | May 28, 2015 |
| PEX7 | 1 | May 28, 2015 |
| PMM2 | 2 | May 28, 2015 |
| POLG | 3 | May 28, 2015 |
| POLGARF | 3 | May 28, 2015 |
| PPT1 | 1 | May 28, 2015 |
| SCN1B | 1 | May 28, 2015 |
| SLC2A1 | 1 | May 28, 2015 |
| SLC3A1 | 1 | May 28, 2015 |
| TPP1 | 1 | May 28, 2015 |
Condition
| Name | Submissions | Last Updated | | Adenylosuccinate lyase deficiency | 1 | May 28, 2015 |
| Alternating hemiplegia of childhood 2 | 1 | May 28, 2015 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 | May 28, 2015 |
| Atrial fibrillation, familial, 13 | 1 | May 28, 2015 |
| Autosomal dominant Parkinson disease 8 | 1 | May 28, 2015 |
| Bilateral frontoparietal polymicrogyria | 1 | May 28, 2015 |
| Cardiofaciocutaneous syndrome 1 | 1 | May 28, 2015 |
| Cardiofaciocutaneous syndrome 3 | 1 | May 28, 2015 |
| Congenital myotonia, autosomal dominant form | 1 | May 28, 2015 |
| Cystic fibrosis | 3 | May 28, 2015 |
| Cystinuria | 1 | May 28, 2015 |
| Developmental and epileptic encephalopathy, 36 | 1 | May 28, 2015 |
| Encephalopathy due to GLUT1 deficiency | 1 | May 28, 2015 |
| GRACILE syndrome | 1 | May 28, 2015 |
| Gaucher disease type I | 1 | May 28, 2015 |
| Intellectual disability, autosomal dominant 20 | 1 | May 28, 2015 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | May 28, 2015 |
| MOGS-congenital disorder of glycosylation | 1 | May 28, 2015 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | May 28, 2015 |
| Microcephaly 9, primary, autosomal recessive | 1 | May 28, 2015 |
| Mitochondrial complex I deficiency | 1 | May 28, 2015 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | May 28, 2015 |
| Mosaic variegated aneuploidy syndrome 1 | 1 | May 28, 2015 |
| Neuronal ceroid lipofuscinosis 1 | 1 | May 28, 2015 |
| Neuronal ceroid lipofuscinosis 2 | 1 | May 28, 2015 |
| Niemann-Pick disease, type C1 | 1 | May 28, 2015 |
| PMM2-congenital disorder of glycosylation | 2 | May 28, 2015 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | May 28, 2015 |
| Progressive sclerosing poliodystrophy | 2 | May 28, 2015 |
| Pyridoxine-dependent epilepsy | 1 | May 28, 2015 |
| Rett syndrome | 1 | May 28, 2015 |
| Rhizomelic chondrodysplasia punctata type 1 | 1 | May 28, 2015 |
| Sandhoff disease | 1 | May 28, 2015 |
| Smith-Lemli-Opitz syndrome | 1 | May 28, 2015 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | May 28, 2015 |
| Wilson disease | 1 | May 28, 2015 |
