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DNA Diagnostic & Research Laboratory

About Us

The DNA Diagnostic & Research Laboratory (DDRL) at KK Women’s and Children’s Hospital has been dedicated to providing high quality DNA-based testing for the molecular diagnosis, carrier testing and prenatal testing of genetic disorders, for over 10 years. Mutation detection methods used in the laboratory include automated capillary-based sequencing and genotyping, PCR, multiplex ligation-dependent probe amplification and Southern techniques. The laboratory currently provides DNA tests for over 10 genetic diseases, with continuous development of new tests and implementation of improved testing methodologies.

Hours of Operation

Monday - Friday : 8.00 am to 5.30 pm
Saturday : 8.30 am to 12.30 pm

Accreditations

SAC-SINGLAS (Mutual Recognition Arrangement with APLAC which includes NATA, HKAS, KAN, SM etc)

Our Professionals

Laboratory Staff

Clincal Staff

  • Dr Angeline Lai, MBBS, MRCP (Paeds), Senior Consultant and Head, Genetics Service
  • Clin Prof Ivy Ng, MBBS, MMed (Paeds), FRCP, FAMS, Senior Consultant, Genetics Service
  • Dr Tan Ee Shien, MBBS, MRCP (Paeds), Senior Consultant, Genetics Service
  • Dr Saumya Shekhar Jamuar, MBBS, MRCPCH, Senior Consultant, Genetics Service
  • Dr Ting Teck Wah, MBBS, MRCPCH (UK), Consultant, Genetics Service
  • Dr Teo Siak Hong, MBBS, MMed (Paeds), FAMS, Visiting Consultant, Genetics Service
  • Ms Breana Cham Wen Min, BSc, MHSc (Genet Couns), Senior Genetic Counsellor, Genetics Service
  • Ms Lim Jiin Ying, BSc, M. Gen Couns, Genetic Counsellor, Genetics Service
  • Ms Jasmine Goh Chew Yin, Senior Staff Nurse, Genetics Service

Contact Us

DNA Diagnostic & Research Laboratory
KK Women’s and Children’s Hospital
Children’s Tower, Basement 1
100 Bukit Timah Road
Singapore 229899

Phone: (65) 6394 1395/6
Fax: (65) 6394 1397

For general inquiries, please contact Ms Emin Tan at 6394 1396 or Tan.Emin@kkh.com.sg

Note 1: The Laboratory does not perform kinship / paternity testing.

Note 2: The Laboratory does not provide direct patient consultation. The tests may only be ordered through a physician or genetic counsellor.

Diagnostic Tests Available

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.

DNA Prenatal Tests Offered

  • 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

Specimen Requirements

  • Blood Specimens
    • EDTA (purple) tubes
    • Adult: 3-6 mls, Child: 1-3 mls, Infant: 1 ml
  • Fetal Specimens
    • The referring centre is advised to contact the lab regarding prenatal tests prior to sending any samples.
    • For the most accurate fetal results, analysis of family members is often required.
      For autosomal recessive conditions, blood specimens from both parents and the affected sibling should be sent for molecular analysis.
      For autosomal dominant or X-linked conditions, the high-risk parent and the affected relative should be studied.
    • Some disorders may require analysis of additional family members for precise interpretation of fetal results.
    • Fetal specimens should be clearly labelled with the mother's full name and type of fetal sample (CVS or amnio). Maternal blood is required for all prenatal tests to rule out contamination.
    • Amniotic fluid: 30mls
    • Amniotic fluid (for QF-PCR): 2mls
    • Chorionic villi: 15-20mg
  • Requisition Forms

    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.


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