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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Muscular Dystrophy

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Muscular Dystrophy
Bethlem/Ullrich myopathy. NGS analysis of CCOL6A1, COL6A2 and COL6A3 genes.
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
BETH-NGS 2,500.00 zł up to 8 weeks
Muscular Dystrophy
Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). Identification of the most frequent: c.550delA i p.Arg490Gln and other mutations in exons 4 i 11 of the CAPN3 gene
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
CAPN3-1 486.00 zł up to 3 weeks
Muscular Dystrophy
Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). NGS analysis of the CAPN3 gene.
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
CAPN3-NGS 2,200.00 zł up to 8 weeks
Muscular Dystrophy
Myotonic Dystrophy. Screening for CTG repeat expansion in the DMPK gene and complex repeat motif(TG)n(TCTG)n(CCTG)n expansion in the CNBP gene 1
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
DM1/DM2 1,000.00 zł up to 10 weeks
Muscular Dystrophy
Duchenne/Becker muscular dystrophy (DMD/BMD). Identification of large deletions/duplications in the DMD gene using MLPA method 1
   We perform genetic testing from:
  • venous blood collected into a morphological tube containing EDTA
DMD-MLPA 890.00 zł up to 6 weeks
Muscular Dystrophy
Duchenne/Becker muscular dystrophy (DMD/BMD). NGS analysis of DMD gene.
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
DMD-NGS 2,250.00 zł up to 8 weeks
Muscular Dystrophy
Emery-Dreifuss muscular dystrophy (EDMD). NGS analysis of EMD, FHL1 and LMNA genes.
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
EDMD-NGS 2,500.00 zł up to 8 weeks
Muscular Dystrophy

   We perform genetic testing from:
  • venous blood collected into a morphological tube containing EDTA
FSHD-1 5,500.00 zł contact us
Muscular Dystrophy
HyperCKemia. NGS analysis of CAV3, GAA and DAG1 genes.
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
HCK-NGS 2,500.00 zł up to 8 weeks
Muscular Dystrophy
LAMA2-Related Muscular Dystrophy (LAMA2 MD). NGS analysis of the LAMA2 gene
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
LAMA2-NGS 2,250.00 zł up to 8 weeks
Muscular Dystrophy
Limb-Girdle Muscular Dystrophy (LGMD). NGS analysis of 7 genes related to LGMD1 (type 1A-G)and 15 genes related to LGMD2 (type 2A-G, I, K-O, Q and S)
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
LGMD-NGS 3,000.00 zł up to 8 weeks
Muscular Dystrophy
Limb-Girdle Muscular Dystrophy type 1 (LGMD1). NGS analysis of 7 genes: CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT and TNPO3 related to LGMD type 1A-G.
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
LGMD1-NGS 2,500.00 zł up to 8 weeks
Muscular Dystrophy
Limb-Girdle Muscular Dystrophy type 2 (LGMD2). NGS analysis of 15 genes: CAPN3, ANO5, DYSF, FKRP, FKTN, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP and TRAPPC11 related to LGMD type 2A-G, I, K-O, Q and S.
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
LGMD2-NGS 2,700.00 zł up to 8 weeks
Muscular Dystrophy
Walker-Warburg syndrome. NGS analysis 11 genes related to the disease:POMT1, POMT2, FKTN, FKRP, POMGNT1, ISPD, LARGE, COL6A1, COL6A2, COL6A3 and DAG1
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
WWS-NGS 2,700.00 zł up to 8 weeks

Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC).
Variant nomenclature according to the Human Genome Variation Society (HGVS) v.15.11. Exons are numbered according to the HGMD reference sequence and the full human genome (hg38).
Variant interpretation according to the American College of Medical Genetics and Genomics (ACMG).
NGS pathogenic variants confirmed by Sanger.
1 Tests performed in a certified laboratory cooperating with the Genomed Healthcare Center



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