Approximate time required for this test:
Sanger sequencing determines the order of nucleotides in a single gene. Some types of gene variant may be targeted by techniques such as PCR or MLPA for identification, amplification and sequencing. Single gene sequencing can also be done on an NGS platform.
Variant identification & interpretation
The patient’s gene sequence is compared to a reference DNA sequence to reveal sites of variation: single nucleotide changes and small deletions, insertions or duplications. Variants that alter gene function and may explain the patient phenotype are classified from benign to pathogenic.
Case review / Medical scientist
Variants identified by single gene sequencing are reviewed against the clinical information and patient phenotype. Variants that may explain the phenotype and clinical features are interpreted and reported by the medical scientist.