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 before examination: 5 days 2 – 8°C

Buccal swab | 2x swab stick for buccal swab collection

Storage before examination: 5 days 15 – 25°C

Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.

Storage before examination: 5 days 15 – 25°C

Chorionic villi | Chorionic villi, min. 30 mg tissue in a microtube (Eppendorf type)

Storage before examination: 1 day 15–25°C, 2–8°C for >8 hrs after collection

Amniotic fluid | 3x 10 ml of amniotic fluid in a tube

Storage before examination: 1 day 15–25°C, 2–8°C for >8 hrs after collection

Cord blood | 2–3 ml of cord blood in EDTA

Storage before examination: 1 days 15–25°C, 2–8°C for >8 hrs after collection

Conception product | Foetal tissue in saline

Storage before examination: 5 days 2–8°C for >8 hrs after collection

Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)

Storage before examination: 3 days 2 – 8°C

Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)

Storage before examination: 5 days 15 – 25°C

Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)

Storage before examination: 5 days 15 – 25°C

DNA isolated from the product of conception | 50–100 ng/μL in microtube (Eppendorf type)

Storage before examination: 5 days 15 – 25°C

Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)

Storage before examination: 5 days 15 – 25°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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