Molecular Genetics Laboratory - Diagnostics Genetics (LabPLUS - Auckland City Hospital)
General information
Molecular Genetics Laboratory - Diagnostics Genetics
LabPLUS - Auckland City Hospital
Building 31, Auckland City Hospital
Gate 4 off Grafton Rd
Auckland
Auckland
New Zealand - 1148
http://www.labplus.co.nz/laboratory-services/diagnostic-genetics/
Organization ID: 17510
LabPLUS - Auckland City Hospital
Building 31, Auckland City Hospital
Gate 4 off Grafton Rd
Auckland
Auckland
New Zealand - 1148
http://www.labplus.co.nz/laboratory-services/diagnostic-genetics/
Organization ID: 17510
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1
Condition
Name | Submissions | Last Updated |
---|---|---|
Immunodeficiency, common variable, 10 | 1 | Oct 17, 2022 |
Testing in GTR
Disease name | Number of tests |
---|---|
Achondroplasia | 1 test |
Adrenoleukodystrophy | 1 test |
Albright hereditary osteodystrophy | 1 test |
Angelman syndrome | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 test |
Becker muscular dystrophy | 1 test |
Carney-Stratakis syndrome | 1 test |
Carnitine palmitoyl transferase 1A deficiency | 1 test |
Citrullinemia type I | 1 test |
Classical galactosemia, homozygous Duarte-type | 1 test |
Crouzon syndrome-acanthosis nigricans syndrome | 1 test |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
Developmental and epileptic encephalopathy, 2 | 1 test |
Duchenne muscular dystrophy | 1 test |
Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 test |
Fabry disease | 1 test |
Familial adenomatous polyposis 1 | 1 test |
Familial medullary thyroid carcinoma | 1 test |
Fragile X syndrome | 1 test |
Harlequin syndrome | 1 test |
Hereditary breast ovarian cancer syndrome | 1 test |
Hereditary diffuse gastric adenocarcinoma | 1 test |
Hereditary pheochromocytoma-paraganglioma | 1 test |
Huntington disease | 1 test |
Hyperinsulinism due to glucokinase deficiency | 1 test |
Hypochondroplasia | 1 test |
Kugelberg-Welander disease | 1 test |
LAMA2-related muscular dystrophy | 1 test |
Larsen syndrome | 1 test |
Leprechaunism syndrome | 1 test |
Lissencephaly due to LIS1 mutation | 1 test |
Maturity onset diabetes mellitus in young | 1 test |
Maturity-onset diabetes of the young type 1 | 1 test |
Maturity-onset diabetes of the young type 2 | 1 test |
Maturity-onset diabetes of the young type 3 | 1 test |
McCune-Albright syndrome | 1 test |
Muenke syndrome | 1 test |
Multiple endocrine neoplasia, type 2 | 1 test |
Myoclonic dystonia 11 | 1 test |
Neuronal ceroid lipofuscinosis 7 | 1 test |
Non-ketotic hyperglycinemia | 1 test |
Osteogenesis imperfecta | 1 test |
Osteogenesis imperfecta, type III/IV | 1 test |
PTEN hamartoma tumor syndrome | 1 test |
Paragangliomas 1 | 1 test |
Paragangliomas 3 | 1 test |
Paragangliomas 4 | 1 test |
Pheochromocytoma | 1 test |
Prader-Willi syndrome | 1 test |
Pseudohypoparathyroidism | 1 test |
Pseudopseudohypoparathyroidism | 1 test |
Qualitative or quantitative defects of dystrophin | 1 test |
Renal cysts and diabetes syndrome | 1 test |
Rett syndrome | 1 test |
Severe neonatal-onset encephalopathy with microcephaly | 1 test |
Spinal muscular atrophy | 1 test |
Steinert myotonic dystrophy syndrome | 1 test |
Telangiectasia, hereditary hemorrhagic, type 1 | 1 test |
Thanatophoric dysplasia type 1 | 1 test |
Torsion dystonia 6 | 1 test |
Tuberous sclerosis 2 | 1 test |
Very long chain acyl-CoA dehydrogenase deficiency | 1 test |
Von Hippel-Lindau syndrome | 1 test |
Werdnig-Hoffmann disease | 1 test |
Wilson disease | 1 test |
X-linked cone-rod dystrophy 3 | 1 test |