Molecular Diagnostics Lab (Nemours Children's Health, Delaware)
General information
Molecular Diagnostics Lab
Nemours Children's Health, Delaware
1600 Rockland Road
RC1 lab 155
Wilmington
Delaware
United States - 19803
http://www.nemours.org/pediatric-research/labservices/diagnostic/molecular-diagnostics-lab.html
Organization ID: 28338
Nemours Children's Health, Delaware
1600 Rockland Road
RC1 lab 155
Wilmington
Delaware
United States - 19803
http://www.nemours.org/pediatric-research/labservices/diagnostic/molecular-diagnostics-lab.html
Organization ID: 28338
Personnel
- Susan Kirwin, Lab Associate Director
Phone: 302-651-6775
Email: skirwin@nemours.org - Kathleen Vinette, Contact
Phone: 302-651-6777
Email: kvinette@nemours.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 493
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALMS1 | 2 | Oct 28, 2024 |
| APOL1 | 3 | Jan 20, 2017 |
| AXDND1 | 1 | Oct 28, 2024 |
| BRAF | 9 | Dec 22, 2015 |
| CASR | 4 | Jan 20, 2017 |
| CHRNG | 4 | Jun 13, 2023 |
| COL4A5 | 1 | Oct 21, 2024 |
| COQ8B | 1 | Oct 28, 2024 |
| CRB2 | 1 | Oct 28, 2024 |
| CUBN | 2 | Oct 28, 2024 |
| CYP24A1 | 8 | Jul 24, 2024 |
| DNASE1L1 | 6 | Jun 14, 2023 |
| DOCK6 | 2 | Jan 20, 2017 |
| EMD | 15 | Jan 20, 2017 |
| FAM20A | 1 | Jan 20, 2017 |
| GCM2 | 3 | Jan 20, 2017 |
| GJC2 | 28 | Jul 12, 2024 |
| HEPACAM | 2 | Jul 12, 2024 |
| HRAS | 8 | Dec 22, 2015 |
| HYCC1 | 4 | Jul 12, 2024 |
| IGHMBP2 | 2 | Jan 20, 2017 |
| ITGB4 | 1 | Oct 28, 2024 |
| KRAS | 2 | Dec 22, 2015 |
| LDLR | 3 | Jan 20, 2017 |
| LIG4 | 4 | Jan 20, 2017 |
| LOC100287944 | 1 | Jul 12, 2024 |
| LOC123956210 | 1 | Jun 23, 2023 |
| LOC126806995 | 1 | Oct 28, 2024 |
| LOC126860970 | 1 | Jul 12, 2024 |
| LOC126860971 | 1 | Jul 12, 2024 |
| LOC130068869 | 4 | Jun 14, 2023 |
| LRRC56 | 8 | Dec 22, 2015 |
| MAP2K1 | 3 | Dec 22, 2015 |
| MECP2 | 37 | Jun 14, 2023 |
| MED28 | 1 | Oct 28, 2024 |
| MEFV | 1 | Oct 21, 2024 |
| MIR17HG | 1 | Jan 20, 2017 |
| MLC1 | 2 | Jul 12, 2024 |
| MYCN | 7 | Jun 13, 2023 |
| MYCNOS | 1 | Jan 20, 2017 |
| MYH9 | 1 | Oct 28, 2024 |
| NKX2-1 | 43 | Jun 15, 2023 |
| NPHS1 | 1 | Jun 14, 2023 |
| NPHS2 | 2 | Oct 28, 2024 |
| PCNT | 8 | Jun 26, 2023 |
| PLP1 | 100 | Oct 11, 2024 |
| PMM2 | 1 | Oct 21, 2024 |
| POLR3A | 20 | Jul 12, 2024 |
| POLR3B | 10 | Jul 12, 2024 |
| PRKAR1A | 1 | Jan 20, 2017 |
| PTPN11 | 14 | Jan 12, 2017 |
| PTPRO | 1 | Oct 28, 2024 |
| PYGM | 2 | Jan 20, 2017 |
| RAB9B | 100 | Oct 11, 2024 |
| RAF1 | 1 | Dec 22, 2015 |
| RBM10 | 1 | Jan 20, 2017 |
| SFTA3 | 43 | Jun 15, 2023 |
| SHOC2 | 1 | Dec 22, 2015 |
| SLC16A2 | 3 | Jul 12, 2024 |
| SLC22A12 | 1 | Jun 13, 2023 |
| SLC26A4 | 12 | Jun 26, 2023 |
| SLC2A9 | 2 | Jun 13, 2023 |
| SMARCAL1 | 1 | Oct 28, 2024 |
| SMN1 | 31 | Jun 15, 2023 |
| SOS1 | 4 | Jul 14, 2017 |
| TAFAZZIN | 58 | Jun 15, 2023 |
| TRPV4 | 6 | Jan 20, 2017 |
| TUBB4A | 9 | Jul 12, 2024 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 3-Methylglutaconic aciduria type 2 | 3 tests |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 test |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 tests |
| Benign hereditary chorea | 1 test |
| Brachyrachia (short spine dysplasia) | 1 test |
| Brain-lung-thyroid syndrome | 1 test |
| Cardiofaciocutaneous syndrome 1 | 3 tests |
| Charcot-Marie-Tooth disease axonal type 2C | 1 test |
| Costello syndrome | 1 test |
| Dilated cardiomyopathy 3B | 1 test |
| Feingold syndrome type 1 | 1 test |
| Feingold syndrome type 2 | 1 test |
| Focal segmental glomerulosclerosis 4, susceptibility to | 1 test |
| Hb SS disease | 1 test |
| Hidrotic ectodermal dysplasia syndrome | 1 test |
| Hypercalcemia, infantile, 1 | 1 test |
| Hypomyelinating leukodystrophy 2 | 1 test |
| Hypomyelinating leukodystrophy 6 | 1 test |
| Ichthyosis, hystrix-like, with hearing loss | 1 test |
| Kugelberg-Welander disease | 1 test |
| LEOPARD syndrome 2 | 1 test |
| LEOPARD syndrome 3 | 1 test |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | 1 test |
| Metatropic dysplasia | 1 test |
| Mutilating keratoderma | 1 test |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 test |
| Noncompaction of left ventricular myocardium, familial isolated | 1 test |
| Noonan syndrome 3 | 1 test |
| Noonan syndrome 4 | 1 test |
| Noonan syndrome 5 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
| Pelizaeus-Merzbacher disease | 1 test |
| Qualitative or quantitative defects of dystrophin | 1 test |
| Rett syndrome | 1 test |
| Scapuloperoneal spinal muscular atrophy | 1 test |
| Sickle cell-hemoglobin C disease | 1 test |
| Spinal muscular atrophy | 1 test |
| Spinal muscular atrophy, type II | 1 test |
| Spinal muscular atrophy, type IV | 1 test |
| Spondyloepimetaphyseal dysplasia, Maroteaux type | 1 test |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 test |
| Syndromic X-linked intellectual disability Lubs type | 1 test |
| Werdnig-Hoffmann disease | 1 test |