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 neonatal analysis: 5 working days
METHOD : The Multiplex Ligation-dependent Probe Amplification (MLPA) kit P060-B2 SMA from MRC-Holland is used to detect copy number of exons 7 and 8 of SMN1 and SMN2, at region 5q13.2. Testing was performed alongside negative and positive controls. Analysis was performed using Coffalyser.Net. Reference sequence used: SMN1 - NM_000344.4, NP_000335.1 and SMN2 - NM_017411.4, NP_059107.1.
LIMITATION : The assay cannot detect point mutations nor can it discriminate between 2 copies of SMN1 on the same chromosome versus 2 copies on separate chromosomes.
For diagnostic and carrier testing for Spinal Muscular Atrophy (SMA).
IMPORTANT NOTES
:
The clinical presentation should be provided. Failure to provide the clinical detail required may delay testing.
REFERRAL REQUIREMENTS
:
Diagnostic referrals accepted from Paediatrics, Neurology or Genetic Services.
Carrier testing accepted from Genetic Services.
CONTACT
:
Genetic Health Service NZ can be contacted on 0800 476 123.
Neurology can be contacted on (09) 307 4949 ext. 25662.
General Paediatrics can be contacted on (09) 307 4949 ext. 22559.
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.