The Royal Children's Hospital Melbourne
Home
About
News
Careers
Support us
Contact
A great children's hospital, leading the way
Health Professionals
Patients and Families
Departments and Services
Research
Health Professionals
Departments and Services
Patients and Families
Research
Home
About
News
Careers
Support us
Contact
Search
Specimen Collection
Toggle section navigation
In this section
Specimen collection
High-risk result notification
Blood specimen order of draw
RCH Paediatric Blood Collection Volume Guide
Pathology request form
Clinical Analyte Unit conversion tool
RCH
>
Specimen collection
> Ashkenazi Genetic Disorders Carrier Screen
In this section
Specimen collection
High-risk result notification
Blood specimen order of draw
RCH Paediatric Blood Collection Volume Guide
Pathology request form
Clinical Analyte Unit conversion tool
Ashkenazi Genetic Disorders Carrier Screen
Test Name
Ashkenazi Genetic Disorders Carrier Screen
Test Code
SAAGD
Specimen Type
EDTA or Buccal Swab
Minimum Volume
2 x 2.7mL EDTA or 2x Buccal Swab
Comments
This test includes screening for:
Ashkenazi Testing, ASPA Gene Test, Bloom Syndrome, BLM Gene Test, Tay Sachs, SMPD1, Niemann Pick Type A, Jewish Mutation Panel, IKBKAP, HEXA, Fanconi Anaemia Type C, FAC, Familial dysautonomia, Canavan Disease, ASPA, SMPD1, IKBKAP, Mucolipidosis IV, MCOLN1
If the patient does not meet Medicare criteria (MBS item 73453) or does not have a Medicare card then the cost of the test is $330.00.
Laboratory Notes:
Send at 4C.
Assay Performed
Australian Clinical Labs
1868 Dandenong Rd
Clayton 3168
VIC
9538 6707
Enquiries: 95382259
Assay Frequency
Weekly - Tuesdays