Bethlem myopathy / Ullrich congenital muscular dystrophy / Myosclerosis Myopathy

Genetic test Export to PDF

Full name:	Bethlem myopathy / Ullrich congenital muscular dystrophy / Myosclerosis Myopathy
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region Deletion/duplication analysis
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centrum Medische Genetica - UZ Gent
RIZIV code:	565471-565482
Accreditation (ISO 15189):	2021-09-11 / 2026-09-10
Turnaround time (maximum):	8 weeks
Document(s):	H9.2-F1-Aanvraagformulier-postnataal-genetisch-onderzoek-v29.pdf315.8 KB
Created:	29 Jul 2019 - 08:05
Changed:	13 Dec 2022 - 22:11

Related Diseases

• Bethlem myopathy
• Congenital muscular dystrophy, Ullrich type
• Myosclerosis
• Primary dystonia, DYT27 type

Related Laboratories

• Centrum Medische Genetica - UZ Gent

Related Analytes

• COL12A1
• COL6A1
• COL6A2
• COL6A3

Related Gene Panels

• Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  COL6A1	100.00	1
  COL12A1	100.00	1
  COL6A2	100.00	1
  COL6A3	100.00	1