先天性代謝病

醫護專業人員

Test	Newborn Screening, Inborn Errors of Metabolism (NBSIEM)
Notes	Disclaimers This test shall only be requested by private doctors under the scheme of newborn screening service to private sector. No direct requests from patients / walk-in are allowed. For the fees of other private laboratory tests, please refer to https://www3.ha.org.hk/fnc/Pathology.aspx?lang=CHIB5 Screening scope Amino acid disorders: argininaemia, argininosuccinic acidaemia, citrullinaemia type I, citrullinaemia type II, homocystinuria, maple syrup urine disease, phenylalanine hydroxylase deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency and tyrosinaemia type I Organic acid disorders: beta-ketothiolase deficiency, glutaric acidaemia type I, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, isovaleric acidaemia, methylmalonic acidaemia (methylmalonyl-CoA mutase deficiency), methylmalonic acidaemia, cblA type (cblA), methylmalonic acidaemia, cblB type (cblB), methylmalonic acidaemia and homocystinaemia, cblC type (cblC), multiple carboxylase deficiency and propionic acidaemia Fatty acid disorders: carnitine-acylcarnitine translocase deficiency, carnitine palmitoyltransferase II deficiency, carnitine uptake deficiency, glutaric acidaemia type II, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency, and very long-chain acyl-CoA dehydrogenase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Biotinidase deficiency Classic galactosaemia Please read the instructions ( PDF版 \| 文字版 \| Text Version ) for collecting dried blood spots and examples of invalid specimen For urgent requests of reporting (e.g. in case of suspected organic aciduria), prior arrangement with the Newborn Screening Laboratory is needed If Tropical Cyclone Warning Signal No. 8 or above / Black Rainstorm Signal / “extreme condition” is lowered before 12:00 noon, specimens should be delivered to the laboratory by 5:00 p.m. on the same day
Newborn Screening Laboratory contacts	Tel: 3513 3139 Email: hkchnbslab@ha.org.hk (for general enquiries) Specimen collection: Mon - Fri 9:00 a.m. - 5:30 p.m.: please deliver specimens directly to Newborn Screening Laboratory, Room 7-A125, 7/F, Tower A, HKCH Weekends and public holidays: please deliver specimens to Central Reception, 7/F, Tower A, HKCH For urgent NBS-related enquiries outside office hours, please consult on-call chemical pathologist via Core Chemical Pathology Laboratory at 3513 3033
Specimen container	Item Name: 903 Protein Saver Card (EU), 100/pk Brand and part no.: Cytiva-Whatman, 10531018 (RUO)/ 10534612 (IVD)	Item Name: Revvity 226 Protein Saver Card, 100/pk Brand and part no.: Revvity, GR2261005 (RUO)/ GR2261009 (IVD)
Forms	Request form is required and informed consent should be taken. Please contact our laboratory for further information if needed.
Turn-around-time	5 working days

Last modified: 2025-06-01