Genetic testing

Muscular Dystrophy

Genetic Testing Offered by NZOZ Genomed

Test Description	The Code	Price	Turnaround time
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	550.00 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	1,600.00 zł	up to 14 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	990.00 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	1,600.00 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 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, WES-based analysis 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	3,800.00 zł	up to 14 weeks
Muscular Dystrophy 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	NMD-SNGS	1,750.00 zł	up to 14 weeks
Muscular Dystrophy 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	NMDW-SNGS	1,700.00 zł	up to 14 weeks

Gene symbols and names according to the HUGO Gene Nomenclature Committee (HGNC).
Variant nomenclature according to the Human Genome Variation Society (HGVS) v.19.01. 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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Genetic testing