Spinal muscular atrophy – determination of copy number of exon 7 and 8 in the SMN1 gene

Test covered by the reimbursement:
YES
Clinical expertise code:
208
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab …
Turnover time:
3 weeks
STATIM:
3 days

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Chorionic villi | Chorionic villi, min. 30 mg tissue in a microtube (Eppendorf type)
Storage after examination: week after the report is issued 2 – 8°C
Amniotic fluid | 3x 10 ml of amniotic fluid in a tube
Storage after examination: week after the report is issued 2 – 8°C
Cord blood | 2–3 ml of cord blood in EDTA
Storage after examination: week after the report is issued 2 – 8°C
Conception product | Foetal tissue in saline
Storage after examination: 1 aliquot is stored -25°C
Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)
Storage after examination: 180 days 2 – 8°C
Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from the product of conception | 50–100 ng/μL in microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C

Quick test description:

Examination of SMN1 and SMN2 genes associated with spinal muscular atrophy (SMA) by MLPA method. This concerns an autosomal recessive disease that is most often associated with homozygous deletion of exon 7 in the SMN1 gene (almost 95% of all patients with SMA).

Test details:

Spinal muscular atrophy (SMA) is a neuromuscular inherited disease. The cause of SMA in more than 95% of patients is a mutation in the SMN gene, with homozygous biallelic deletion of exon 7 in the SMN1 gene. The remaining patients include compound heterozygotes with a deletion in combination with a small intragenic mutation of the SMN1 gene and patients with an SMA phenotype not caused by a mutation in the SMN1 gene. It manifests as progressive muscle weakness and atrophy. The number of copies of the SMN2 gene does not affect the development of the disease. On the contrary, patients with multiple copies of the SMN2 gene have been shown to have milder manifestations of the disease. It is the second most common fatal AR childhood disease after cystic fibrosis, with an incidence of 1:6,000–10,000 live births and a heterozygous frequency of 1:40 to 1:60. The deletion of exons 7 and 8 in the SMN1 gene is detected by Multiplex Ligation-dependent Probe Amplification (MLPA). This method is not intended to detect point mutations.

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