Test Code: PNL082

Distal myopathies (211 Genes)

Neurogenetics

This panel analyzes 211 genes associated with hereditary distal myopathies, a group of inherited muscle disorders characterized by progressive weakness and wasting of the distal muscles (hands, feet, forearms, and lower legs). Testing is indicated for individuals with clinical features suggestive of a distal myopathy, distal muscle weakness (foot drop, grip weakness, or difficulty with fine motor tasks); normal or mildly elevated creatine kinase (CK); characteristic findings on muscle biopsy (e.g., rimmed vacuoles, protein aggregates); family history consistent with autosomal dominant or recessive inheritance. including- distal muscle weakness (foot drop, grip weakness, or difficulty with fine motor tasks); normal or mildly elevated creatine kinase (CK); characteristic findings on muscle biopsy (e.g., rimmed vacuoles, protein aggregates); family history consistent with autosomal dominant or recessive inheritance.

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

211 genes

AAAS AARS1 ABCA1 ABCD1 ACTA1 AIFM1 ALDH18A1 AMACR ANO5 AP5Z1 APOA1 APTX ARSA ATL1 ATL3 ATM ATP1A1 ATP7A B4GALNT1 BAG3 BICD2 BIN1 BSCL2 CFAP276 MTRFR CAV3 CHCHD10 CLCF1 CLTCL1 CNTNAP1 COQ4 COQ7 COX6A1 COX10 COX20 CPOX CRLF1 CRYAB CTDP1 CYP2U1 CYP7B1 CYP27A1 DCTN1 DDHD1 DES DGAT2 DHH DNAJB2 DNAJB6 DNM2 DNMT1 DST DYNC1H1 DYSF EGR2 ELP1 ERCC8 FA2H HYCC1 FBLN5 FBXO38 FDX2 FGD4 FGF14 FHL1 FIG4 FLNC FLVCR1 FMR1 FXN GALC GAN GARS1 GBA2 GBE1 GBF1 GDAP1 GJB1 GLA GM2A GNB4 GNE GSN HADHA HADHB HARS1 HEXA HEXB HINT1 HK1 HMBS HNRNPA1 HNRNPA2B1 HSPB1 HSPB8 HSPD1 IARS2 IBA57 IGHMBP2 INF2 KARS1 KIF1A KIF5A LAMA2 LDB3 SUCLA2 LITAF LMNA LRSAM1 MARS1 MCM3AP MFN2 MME MORC2 MPC1 MPV17 MPZ MT-TP MTMR2 MYH2 MYH7 MYH14 MYOT NAGLU NDRG1 NEB NEFH NF2 NGF NIPA1 NTRK1 OPA1 PDK3 PDYN PEX7 PHYH PLA2G6 PLEKHG5 PLP1 PMP2 PMP22 PNKP PNPLA6 POLG PPOX PRDM12 PRKCG PRNP PRPS1 PRX PTRH2 RAB7A REEP1 RETREG1 RNASEH1 RRM2B RTN2 SACS SBF1 SBF2 SCN9A SCN10A SCN11A SELENON SETX SH3TC2 SIGMAR1 SLC5A7 SLC12A6 SLC25A19 SLC25A46 SLC52A2 SLC52A3 SNAP29 SOD1 SORD SOX10 SPAST SPG11 SPG21 SPTAN1 SPTLC1 SPTLC2 SQSTM1 SURF1 TDP1 TFG TIA1 TRIM2 TRPV4 TSFM TTN TTPA TTR TUBB3 TWNK TYMP UBA1 VCP VPS13D VRK1 VWA1 WARS1 WASHC5 WNK1 YARS1 ZFYVE26 MATR3 NEFL SPG7 SCO2

Methodology

NGS methods capture all coding exons and flanking intronic regions (±10 bp) of the 21 genes. Enriched libraries are sequenced on an GenolabM platform to an average depth of ≥100×.

Test Code PNL082
Category Neurogenetics
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 211 genes analyzed

Need Help with This Test?

Our team of board-certified genomic scientists is available to answer your questions about test selection, sample requirements, and result interpretation.

Schedule a Consultation Call Us