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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
New Zealand - 1148
Organization ID: 17510

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1


GeneSubmissionsLast Updated
NFKB21Oct 17, 2022


NameSubmissionsLast Updated
Immunodeficiency, common variable, 101Oct 17, 2022

Testing in GTR

Disease nameNumber of tests
Achondroplasia1 test
Adrenoleukodystrophy1 test
Albright hereditary osteodystrophy1 test
Angelman syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Becker muscular dystrophy1 test
Carney-Stratakis syndrome1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Citrullinemia type I1 test
Classical galactosemia, homozygous Duarte-type1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Developmental and epileptic encephalopathy, 21 test
Duchenne muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Fabry disease1 test
Familial adenomatous polyposis 11 test
Familial medullary thyroid carcinoma1 test
Fragile X syndrome1 test
Harlequin syndrome1 test
Hereditary breast ovarian cancer syndrome1 test
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary pheochromocytoma-paraganglioma1 test
Huntington disease1 test
Hyperinsulinism due to glucokinase deficiency1 test
Hypochondroplasia1 test
Kugelberg-Welander disease1 test
LAMA2-related muscular dystrophy1 test
Larsen syndrome1 test
Leprechaunism syndrome1 test
Lissencephaly due to LIS1 mutation1 test
Maturity onset diabetes mellitus in young1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
McCune-Albright syndrome1 test
Muenke syndrome1 test
Multiple endocrine neoplasia, type 21 test
Myoclonic dystonia 111 test
Neuronal ceroid lipofuscinosis 71 test
Non-ketotic hyperglycinemia1 test
Osteogenesis imperfecta1 test
Osteogenesis imperfecta, type III/IV1 test
PTEN hamartoma tumor syndrome1 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Pheochromocytoma1 test
Prader-Willi syndrome1 test
Pseudohypoparathyroidism1 test
Pseudopseudohypoparathyroidism1 test
Qualitative or quantitative defects of dystrophin1 test
Renal cysts and diabetes syndrome1 test
Rett syndrome1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Spinal muscular atrophy1 test
Steinert myotonic dystrophy syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Thanatophoric dysplasia type 11 test
Torsion dystonia 61 test
Tuberous sclerosis 21 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Von Hippel-Lindau syndrome1 test
Werdnig-Hoffmann disease1 test
Wilson disease1 test
X-linked cone-rod dystrophy 31 test