Test Code: PNL183

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) (219 genes)

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

Method: Capture-based target enrichment and Next Generation Sequencing and MLPA

Turnaround Time: 3 weeks

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

Price: 2000

Description:
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.