Genetic Tests

Lab	Laboratory and Community Genetics PaLMS-RNSH NSW
Test Name	Developmental Delay - Autism spectrum disorders
Genes tested	Chromosome_9 Chromosome_8 Chromosome_7 Chromosome_5 Chromosome_4 Chromosome_3 Chromosome_22 Chromosome_2 Chromosome_17 Chromosome_16 Chromosome_15 Chromosome_11 Chromosome_10 Chromosome_1
Test Description	Screening test for unexplained developmental delay and/or mental retardation for multiple microdeletion syndromes simultaneously. Assays of 1p36, 2p16.1, 3q29, 22q13, 5p25, 22q11.21, 10p15.1, 7q11.23, 8q24.12, 9q22.3, 11p15.5, 15q12, 15q24, 16p13.3, 17p13.3, 17p11.2,17q11.2, 17q21.31, 5q35.3, 4p16.3, 16p11.2, 16p13.1, MECP2 / Xq28. Non MBS funded item: A fee of $200.00 will apply.
Method Type	other
Method Comment	Copy number variations using modified MLPA (Multiplex Ligation-dependent Probe Amplification) kit.
Sample Required	5 mL EDTA Blood; or Saliva - Oragene DNA Kit preferred ; or 50 micrograms Extracted DNA. RCPA guideline re sample requirements
Turn around	4 weeks

The following information is provided and updated from time to time by laboratories providing genetic testing. The list of laboratories is not an exhaustive list of the laboratories that provide such testing. Links to a third party website are provided for convenience only. The Royal College of Pathologists of Australasia (RCPA) accepts no responsibility for, and makes no representation concerning, the accuracy, appropriateness, and completeness of the information contained on the following pages or on any linked websites. The RCPA does not provide any direct or implied endorsement of the tests or laboratories listed, and accepts no responsibility for the information provided. The RCPA recommends that all medical testing be performed in an accredited laboratory, and emphasises that the listing of a test or laboratory on this page does not imply that it has been accredited by NATA/RCPA or any other organisation. Users of this information should seek expert professional advice before making any decisions based on this information. Please note that charges may apply for gene tests; enquiries about charges should be made to the laboratory to which a sample is to be referred prior to referral. Users access the linked websites at their own risk.

The Rotal College of Pathologists of Australia