Neurogenetics Reference Lab · Teaching Example
- Panel
- Muscular Dystrophy Panel + DMD MLPA reflex
- Report ID
- TEACH-0005
- Indication
- Delayed motor milestones, calf pseudohypertrophy, CK >15,000 U/L, Gowers sign positive.
- Specimen
- Peripheral blood, EDTA · Received 2026-03-02
- Reported
- 2026-03-15
- Methodology
- Targeted capture NGS with read-depth CNV; reflex MLPA confirmed exonic deletion. Parental MLPA: mother heterozygous carrier.
Patient (anonymized teaching example)
Age 4 years · Male · European ancestry
Clinical: Walked at 18 months, never ran well, frequent falls, calf hypertrophy. CK 18,400 U/L. Older male cousin on maternal side died at 22 with muscular dystrophy.
Reportable Variants
| Gene | Variant | Zygosity | Condition (Mode) | Origin | Classification |
|---|---|---|---|---|---|
Interpretation
This individual is for a deletion of DMD exons 45–50, detected by and confirmed by . The deletion is (sum of exon lengths not a multiple of 3), predicting a truncated, unstable dystrophin protein — the molecular signature of (rather than the milder Becker phenotype). The mother is a heterozygous carrier on MLPA. Classification: Pathogenic. This result is diagnostic for X-linked recessive Duchenne muscular dystrophy.
Recommendations
- •Refer to a Muscular Dystrophy Association / specialist clinic for multidisciplinary care.
- •Initiate corticosteroids (prednisone or deflazacort) at the appropriate age per current standards of care.
- •Cardiac and pulmonary baseline + ongoing surveillance.
- •Genetic counseling for the mother (confirmed carrier) and at-risk female relatives. Recurrence risk for sons is 50%.
- •Discuss exon-skipping therapies eligibility — patients with exon 45–50 deletions may be candidates for casimersen (exon 45) or other amenable therapies depending on flanking exons.