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Metabolic diseases

Genetic Test
Samples Required
EDTA

Metabolic Myopathy panel

SKU MBG-13854
Categories ,
Call to order - 01707 707 560.

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Description

Metabolic myopathies refer to a group of hereditary muscle disorders caused by specific enzymatic defects due to defective genes. Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction

Additional information

Samples

EDTA, LA, TB, VC
Method of testing

NGS
Turnaround Time (TAT) 30-40 days
Number of Genes

29
Genes / Chromosomes / SNPs

ACAD9, ACADM, ACADVL, AGL, ALDOA, CPT2, ETFA, ETFB, ETFDH, FKRP, GAA, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PYGM, RYR1, SLC22A5, SLC25A20, SUCLA2, TK2

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