DNA Diagnostic & Research Laboratory

Alpha-thalassaemia

• DNA analysis for 99% common local α-thalassaemia mutations
• α1 and α2-globin gene sequencing

Achondroplasia

• DNA analysis of specific exon 8 mutation on FGFR3 gene

Angelman syndrome (AS)

• DNA methylation analysis of SNRPN gene
• Identifies ~70% of AS

Beta-thalassaemia

• DNA analysis for 99% common local ß-thalassaemia mutations
• ß-globin gene sequencing

Chromosome microarray analysis (CMA)

• CMA is recommended as the first tier test for developmental delay, intellectual disability and multiple congenital anomalies.

Congenital adrenal hyperplasia (CAH)

• DNA analysis of deletions and common point mutations in CYP21A2 gene resulting in 21-hydroxylase deficiency.

Craniosynostosis syndrome

• DNA analysis of hotspots in FGFR1, 2, 3 & TWIST genes

Duchenne/Becker muscular dystrophy

• Detection of exon deletions and duplications in DMD gene using MLPA (Multiple Ligation Probe Amplification) kit from MRC-Holland
• About 50 – 65% of DMD is caused by deletions and 5 – 10% by duplications in the DMD gene. About 65 – 70% of BMD is caused by deletions and 10 – 20% by duplications in the DMD gene

Fragile X syndrome (FX)

• DNA analysis of CGG trinucleotide repeats in FMR1 gene which accounts for >99% of FX

HLA-B*1502 genotyping

• This test is mandatory for new patients of Asian ancestry to be genotyped for HLA-B*1502 prior to the initiation of carbamazepine (CBZ) therapy due to susceptibility to CBZ sensitivity.

HLA-B*5801 genotyping

• Strong association between HLA-B*5801 allele, which has a high frequency in Asian population, and risk of allopurinol - induced Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN)

Huntington Disease (HD)

• DNA analysis of CAG trinucleotide repeats in exon 1 of Huntingtin (HTT) gene (Exclude predictive / presymptomatic testing)*

Kennedy Disease (KD or SBMA)

• DNA analysis of CAG trinucleotide repeats in exon 1 of androgen receptor (AR) gene (Exclude predictive / presymptomatic testing)*

Myotonic dystrophy (DM Type 1)

• DNA analysis of CTG trinucleotide repeats in DMPK gene (Exclude predictive / presymptomatic testing)*

Prader-Willi syndrome (PWS)

• DNA methylation analysis
• Identifies > 99% PWS

QF-PCR

• Rapid detection of chromosome aneuploidies of chromosomes 13, 18, 21, X & Y with 99.9% sensitivity

Spinocerebellar ataxia (SCA)

• DNA analysis of trinucleotide repeats expansion for SCA types 1, 2, 3, 6, 7 and DRPLA (Exclude predictive / presymptomatic testing)*

Spinal muscular atrophy (SMA)

• Detection of homozygous deletions of SMN1 gene which account for 95-98% of SMA

Spinal muscular atrophy (SMA) carrier test

• Carrier testing by estimation of SMN1 gene copy number

Y chromosome deletion

• DNA analysis of microdeletions in AZFa, AZFb and AZFc, male-specific region of the Y chromosome which accounts for 95% of clinically relevant deletions

Turnaround time for HLA genotyping report: 1 to 2 working days
Turnaround time for QF-PCR report: 2 to 3 working days
Turnaround time for all other test reports: 4 to 6 weeks

*We do not perform presymptomatic testing without detailed counselling as set out in our departmental protocol. If there is any possibility that your request is for anything other than a confirmation or exclusion of this diagnosis, please telephone this department to discuss.

• Alpha-thalassaemia
• Angelman syndrome
• Beta-thalassaemia
• Fragile X syndrome
• Myotonic dystrophy (Type 1)
• Prader-Willi syndrome
• Spinal muscular atrophy
• DMD/BMD (with known deletion /duplication)

Turnaround time for test report: 1 to 2 weeks
Pre-arrangement required

• Clinical Genetics Test Request and Consent Form (For all tests except CMA)
• CMA Request and Consent Form, with patient information on CMA (For CMA only)
• For samples received from centres outside of KKH

Please contact the laboratory for up-to-date test prices and payment modes.

The Laboratory does not provide direct patient consultation. The tests may only be ordered through a physician or genetic counsellor.