Genetic Testing Offered by NZOZ Genomed
|Test Description||The Code||Price||Turnaround time|
Identification of the p.Ala150Pro and p.Ala175Asp mutations and other located in the exon 5 of the ALDOB gene
We perform genetic testing from:
- saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
- venous blood collected into a morphological tube containing EDTA
up to 3 weeks
Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC).
Variant nomenclature according to the Human Genome Variation Society (HGVS) v.15.11. Exons are numbered according to the HGMD reference sequence and the full human genome (hg38).
Variant interpretation according to the American College of Medical Genetics and Genomics (ACMG).
NGS pathogenic variants confirmed by Sanger.