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Genetic Disorders
Genetic Disorders


Test Name: G6PD Mutations Screening
Compliance:CE-IVD
Test Description:Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked genetic disorder, is associated with increased risk of jaundice and kernicterus at birth. Individuals that are G6PD deficient can develop severe jaundice in the neonatal period and acute hemolytic anemia when exposed to certain infections and drugs or when ingesting certain foods such as fava beans. 17 mutation in G6PD could be detected in this test.
Methodology:PCR hybridization detection of G6PD hotspot detection
Gene Name:G6PD
Protein Name:
Specimen Requirements:EDTA Blood (5mL)
Storage Condition:Ambient Temperature / 4℃ (if overnight is needed)
Turn Around Time:5 working days from day of specimen received
OMIM:
Genetic Home Reference:
Phone: +852.2986.1213
Fax:+852.2527.7028
E-mail:contact@hk-mpdc.com
27/F., Strand 50, No.50 Bonham Strand, Sheung Wan, Hong Kong
Opening Hours
Mondays to Fridays: 09:00-18:00
Saturdays: 09:00-16:00
Sundays and Public Holidays: Closed

For specimen pickup arrangements, please phone +852.2986.1213


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