Note:
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
Urgent TAT for prenatal/neonatal analysis: 2 weeks
METHOD: A standard PCR-based amplification and subsequent fluorescence-based capillary electrophoresis are used to detect CTG repeat expansions within the DMPK gene - NM_004409.5. Forward and reverse Triplet-repeat Primed (TP) PCR amplification and subsequent fluorescence-based capillary electrophoresis are used to detect all sizes of expansion within the DMPK gene. Due to the nature of the assays, we estimate that the number of each CTG repeat is correct to within plus or minus one for alleles within the normal range, and up to plus or minus three for alleles within the affected range up to 150 repeats.
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG trinucleotide repeat in the DMPK gene. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK gene.
IMPORTANT NOTES : the clinical presentation should be provided. Failure to provide the clinical detail required may delay testing.
REFERRAL REQUIREMENTS
:
Diagnostic testing requires referral through Neurology, Paediatrics or Genetic Services. Predictive testing only through Genetic Services.
To contact the Molecular Genetics team:
Auckland City Hospital
(09) 307 4949
Lablink
ext 22000
Molecular Genetics Office
ext 22014
Transport all bloods between >8 degrees C to <24 degrees C within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at the temperatures stated above the following day.
For testing of other sample types please contact the laboratory prior to sending.