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Rare diseases / Mutation / Evolutionary biology / Cri du chat / Deletion / Norrie disease / Point mutation / Rett syndrome / DiGeorge syndrome / Health / Syndromes / Genetics


Laboratory User Guides (Website version)
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Document Date: 2015-01-19 22:50:46


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Company

Genetic Laboratory / Wilson / 9 Genetic Laboratory / /

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Facility

Cheung Sha Wan Jockey Club Clinic / Genetic Laboratory / Laboratory User Guides / Laboratory Address / Genetic Counseling Clinic / testing Laboratory Address / /

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MedicalCondition

months Prader Willi syndrome / muscular dystrophy / months Central diabetes insipidus / months Pelizaeus-Merzbacher disease Spastic paraplegia / months Mucopolysaccharidosis / months Spondylocostal dysostosis / months Alport syndrome / SEX DISORDER / months Spondyloepiphyseal dysplasia / Friedreich ataxia / DMPK CTG expansion Myotonic dystrophy / months Achondroplasia / months Hypophosphatatemic rickets / months Fibrodysplasia Ossificans Progressiva / months Simpson-Golabi-Behmel syndrome / Cleidocranial dysplasia / red Hypophosphatatemic rickets / months Saethre-Chotzen syndrome / months Von Hippel-Lindau syndrome / months RENAL DISEASES Alport syndrome / Miller Dieker syndrome / red Rett syndrome / months Waardenburg syndrome / palsies / Noonan syndrome / months LOWE syndrome / months Beckwith-Wiedemann Russell-Silver syndrome / months Mucolipidosis II / DYSMORPHOLOGY Variant Rett syndrome / HEART DISEASE Non-syndromic congenital heart disease / Huntington disease / X syndrome / months Costello syndrome / months Mitochondrial disorder / months Sotos syndrome / months EYE DISEASES Aniridia / muscular atrophy / central hypoventilation syndrome / SCA1 SCA2 SCA3 SCA6 SCA7 SCA8 SCA12 SCA17 Dentatorubral-pallidoluysian atrophy / Retinoblatoma (Rb) 13q14 Smith Magenis syndrome / months Nephrogenic diabetes insipidus / Cri du Chat syndrome / Williams syndrome / red Myotonic dystrophy / months Craniofrontonasal syndrome / months Norrie disease / months Angelman syndrome / months Pyruvate dehydrogenase E1-α deficiency / months Schwartz-Jampel syndrome / undercurrent illness / months Wilson disease / Hemophilia A / disease / Nail-patella syndrome / months CRANIOSYNOSTOTIC SYNDROME Antley-Bixler syndrome / months Retinoblastoma / Myotonic dystrophy / months Leigh syndrome / Polycystic kidney disease / Hemophilia B / ARPKD / months Hypothyroidism / months Congenital fibrosis / vestibular nerve tumor / DiGeorge syndrome / lateral sclerosis / months McCune-Albright syndrome Pseudohypoparathyroidism / months Incontinentia pigmenti / Willi / Angelman syndrome / red Peutz-Jeghers syndrome / neonatal respiratory distress / Spinocerebellar ataxias / Angelman syndrome / thyroid carcinoma / cleft palate / Wolf-Hirschhorn syndrome / METABOLISM Fabry disease / months Schwannoma / muscular dystrophy Kennedy’s disease / months Spastic paraplegia / months Non-syndromic deafness / months Dystonia / MERRF / months Polycystic kidney disease / months Li-Fraumeni syndrome / months Pelizaeus-Merzbacher disease / months Wolfram syndrome / months Apert syndrome Crouzon Syndrome Pfeiffer syndrome / Epidermolysis bullosa dystrophica / α/β Mucolipidosis III / syndrome / genetic disorders / months HEARING LOSS Branchio-oto-renal syndrome / /

MedicalTreatment

counseling / /

Organization

Department of Health Test OMIM ID Laboratory User Guides / Department of Health Laboratory User Guides / DEPARTMENT OF HEALTH GOVERNMENT OF HONG KONG SAR Laboratory Address / Department of Health / Department of Health Test OMIM ID Deafness / /

Person

Shui Po Kowloon / Shui Po / /

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Position

physician / Governor / /

Region

Southeast Asia / /

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