Test Code: PNL183

Myopathies and neuromuscular disorders, comprehensive (219 Genes)

Multigene

The Myopathies and Neuromuscular Disorders Panel (219 Genes) is a broad genetic test that looks at 219 genes linked to inherited muscle and nerve conditions. It covers muscular dystrophies, metabolic myopathies, neuromuscular junction disorders, motor neuron diseases, and peripheral neuropathies. These disorders can affect how muscles and nerves work together, often leading to symptoms such as muscle weakness, fatigue, pain, difficulty swallowing, or balance problems. Because onset can occur at any age, from infancy to adulthood, genetic testing helps clarify the cause, guide treatment, and support family counselling.

Sample Type

3 ml peripheral blood in EDTA (purple/pink top) tube

Turnaround Time

3 weeks days

Courier Requirements

Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Pricing

Genes Analyzed

165 genes

ACTA1 ACTN2 ACVR1 ANO5 ATP2A1 B3GALNT2 BAG3 BIN1 CACNA1S CAPN3 CASQ1 CAV3 CCDC78 CFL2 CHCHD10 CHKB CLCN1 CNTN1 COL12A1 COL6A1 COL6A2 COL6A3 CPT2 CRYAB DAG1 DES DMD DNA2 DNAJB6 DNM2 DPM1 DPM2 DPM3 DYNC1H1 DYSF EMD FHL1 FKBP14 FKRP FKTN FLCN FLNC GAA GGPS1 GIPC1 GMPPB GNE HACD1 HNRNPA1 HNRNPA2B1 IGHMBP2 ISCU ISPD ITGA7 JAG2 KBTBD13 KCNJ2 KLHL40 KLHL41 KLHL9 LAMA2 LAMP2 LARGE1 LDB3 LMNA LMOD3 MATR3 MEGF10 MSTN MTM1 MTMR14 MYBPC1 MYF6 MYH14 MYH2 MYH7 MYL2 MYOT MYPN NEB OPA1 ORAI1 PABPN1 PLAGL1 PLEC PLEKHG5 POLG POLG2 POMGNT1 POMT1 POMT2 POPDC3 PUS1 RRM2B RYR1 SCN4A SELENON SELENON SGCA SGCB SGCD SGCG SIL1 SPEG SQSTM1 STAC3 STIM1 SUCLA2 SYNE1 TARDBP TCAP TIA1 TK2 TMEM5 TNNI2 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TRPA1 TRPV4 TTN TWNK UBA1 VCP VMA21 VRK1 YARS2 mtDNA (ND1 ND2 ND3 ND4 ND4L ND5 ND6 CYTB COX1 COX2 COX3 ATP6 ATP8 MT-TF MT-TV MT-TL1 MT-TL2 MT-TI MT-TQ MT-TM MT-TW MT-TA MT-TN MT-TC MT-TY MT-TS1 MT-TS2 MT-TE MT-TD MT-TK MT-TG MT-TR MT-TH MT-TT MT-TP MT-RNR1 MT-RNR2)

Methodology

Capture-based target enrichment and Next Generation Sequencing and MLPA

Test Code PNL183
Category Multigene
Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT 3 weeks days
Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Genes 165 genes analyzed

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