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MTM1 gene testing – X-linked myotubular myopathy congenital

Test covered by the reimbursement:

YES

Gender:

Woman/Man

Material:

Peripheral blood, Buccal swab …

Turnover time:

3 weeks

STATIM:

1 week

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

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

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

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

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

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

Storage after examination: 180 days 2 – 8°C

Quick test description:

Sequencing of 14 coding exons in the MTM1 gene.

Test details:

MTM1 gene mutations cause X-linked myotubular myopathy (XLMTM). This is a serious, mostly early fatal disease. The X-linked recessive form (XLMTM) is caused by mutations in the myotubularin 1 gene (MTM1). Male offspring are affected. Women are carriers and do not have clinical difficulties. Most children die in the perinatal period, although papers describing patients surviving into childhood have been published. The MTM1 gene – whose mutations are the cause of XLMTM – is located on the long arm of the X chromosome, has 15 exons, of which 14 are coding. Affected patients are tested by polymerase chain reaction (PCR), whereby all 14 coding exons of the MTM1 gene are amplified. PCR products for individual exons are sequenced using the BDTv3.1 sequencing kit and analysed on an automatic genetic analyzer. The obtained sequences are compared with the reference sequence and evidence of mutation (found/not found) is determined.