Neurogenetics Reference Lab · Teaching Example
- Panel
- Reproductive Carrier Screening Panel (450 genes)
- Report ID
- TEACH-0007
- Indication
- Preconception carrier screening; no clinical symptoms.
- Specimen
- Peripheral blood, EDTA · Received 2026-02-12
- Reported
- 2026-02-22
- Methodology
- Targeted capture NGS, mean depth 200×.
Patient (anonymized teaching example)
Age 32 years · Female · Mixed European ancestry
Clinical: Asymptomatic woman planning a pregnancy. No personal or family history of muscle disease.
Reportable Variants
| Gene | Variant | Zygosity | Condition (Mode) | Origin | Classification |
|---|---|---|---|---|---|
Interpretation
This individual is heterozygous for the common GAA pathogenic variant c.-32-13T>G (IVS1-13T>G). This intronic variant disrupts the splice site and is the most common Pompe-causing allele, particularly in adult-onset disease. As a single heterozygous variant in an gene, this result indicates . The individual is asymptomatic and is not at risk for developing Pompe.
Recommendations
- •Reproductive partner testing for GAA is strongly recommended before conception. Carrier-by-carrier couples have a 25% chance per pregnancy of an affected child.
- •If the partner is also a GAA carrier, discuss prenatal testing (CVS/amnio) or preimplantation genetic testing (PGT-M) options.
- •No medical surveillance is indicated for the individual herself — Pompe carriers are not at increased disease risk.
- •Cascade testing of at-risk family members (siblings have 50% chance of being a carrier).