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No Test/Unknown GTP availability

Academic Participant

General Information

Name
No Test/Unknown GTP availability
GTP Code
No Test
Country
United States

People

Qualified Laboratory Technicians
N/A

Quality Indicators - GTP

Academic Participant
Out Sourced Lab(s) in HGTD
N/A
Laboratory SOPs
N/A
GTP Service Description
Data not available
Outsourced Lab(s) Accredited
N/A

Quality Indicators - Procedures/ Services

Test Faults Protocol
Yes

Research

Ethics Committee/Board
N/A

Phenes

Abortion (embryonic lethality), BTBD17-related
Ataxia, spinocerebellar, SCN8A-related
Black hair follicle dysplasia
Cardiomyopathy and juvenile mortality
Cardiomyopathy, dilated, PLN-related
CHILD-like syndrome
Ciliary dyskinesia, primary, NME5-related
Coat colour, oculocutaneous albinism, OCA2-related
Coat colour, phaeomelanin dilution, MFSD12-related
Coat colour, pigment intensity
Darier disease
Deafness, bilateral, and vestibular dysfunction
Deafness, unilateral and vestibular dysfunction
Diffuse cystic renal dysplasia and hepatic fibrosis
Ehlers-Danlos syndrome, classic-like, 1
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, type VII (Dermatosparaxis)
Exfoliative cutaneous lupus erythematosus
Eye malformation, congenital
Familial adenomatous polyposis
Fecundity
Glucocorticoid resistance
Hyperkeratosis, palmoplantar, DSG1-related
Hyperparathyroidism
Hypophosphatasia
Hypothyroidism, congenital dyshormonogenic, with goiter
Laryngeal paralysis, RAPGEF6-related
Leukodystrophy, TSEN54-related
Mannosidosis, beta
Methaemoglobinaemia, CYB5R3-related
Microphthalmia, isolated, with coloboma, RBP4-related
Muscular dystrophy, COL6A3-related
Neuroaxonal dystrophy, MFN2-related
Neuroaxonal dystrophy, VPS11-related
Obesity
Osteochondromatosis
Osteogenesis Imperfecta COL1A
Osteogenesis imperfecta, COL1A2-related
Progressive retinal atrophy, NECAP1-related
recurrent inflammatory pulmonary disease
Screw tail
Sex reversal: XY female, SRY-positive
Stargardt disease 1
Surfactant metabolism dysfunction, pulmonary
upper airway syndrome
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