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NGS Targeted Gene Panels for Muscle Genetics 


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Inherited muscle disorders are complex and not limited to genetics of the muscle itself. The neurogenetic system, the metabolic system, as well as mitochondrial genetic factors can impact or cause muscle disorders.

A number of genetic muscle disorders are known and can be grouped into three major categories: muscular dystrophy, congenital myopathy and metabolic diseases. Metabolic myopathy can be caused for example by disorders in the glycogen or lipid storage pathways.

Mitochondrial myopathy belongs to neuromuscular diseases that are caused by defects or disorders in the mitochondrial DNA (mtDNA) leading to dysfunction of the mitochondrial energy pathway.

Congenital myopathy can be caused by problems with the muscle, the nerve that stimulates the  muscle, or the brain. 

On this website different NGS targeted gene panels are listed that are recommended for the screening of different syndromes of muscle disorders including muscular dystrophy, congenital myopathy, myofibrillar myopathy (MFM), or nemaline myopathy.

Myofibrillar myopathy for example is associated with mutations in the genes DES, CRYAB, MYOT, LDB3, and FLNC (Selcen 2008).

For more information on the targeted genes please contact the corresponding panel provider.

For general information on muscle disorders we recommend the National Institute of Health website


Hypotonia - NGS Panel

Congenital Hypotonia Panel

The Congenital Hypotonia Panel consists of tests for five genetic conditions most often associated with isolated congenital hypotonia in newborns: spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14.
Targeted genes: DMPK, MEG3, SMN1, SNRPN
Source: Emory Genetics Laboratory


Muscle Genetics (see also Neurogenetics) - NGS Panels

Alpha-Dystroglycanopathy

Multi Gene Panel (13 Genes)
Targeted genes: B3GALNT2 B3GNT1 FKRP FKTN GMPPB ISPD LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5
Source: Medical Genetics Center

Bethlem myopathy panel

Targeted genes: COL6A1, COL6A2, COL6A3, COL12A1

Source: Centogene

Cardiomyopathy in the Context of Neuromuscular Disease

Multi Gene Panel (46 Genes)
Targeted genes: ACTA1 AGL BAG3 CAV3 CHKB CRYAB DES DMD EMD ETFA ETFB ETFDH FHL1 FKRP FKTN FLNC GAA GBE1 GNE LAMP2 LARGE LDB3 LMNA MTO1 MYH7 MYOT PLEC PNPLA2 POMGNT1 POMT1 POMT2 SCO2 SEPN1 SGCA SGCB SGCD SGCG SLC22A5 SLC25A3 SYNE1 SYNE2 TAZ TCAP TMEM43 TTN VCP
Source: Medical Genetics Center

Childhood: Muscle Weakness with High CK (>6x) / Congenital Muscular Dystrophies / Alpha-Dystroglycanopathies

Multi Gene Panel (40 Genes)
Targeted genes: ANO5 B3GALNT2 B3GNT1 CAPN3 CHKB COL6A1 COL6A2 COL6A3 DES DMD DYSF EMD FHL1 FKRP FKTN GMPPB ISPD ITGA7 LAMA2 LARGE LIMS2 LMNA PLEC POMGNT1 POMGNT2 POMK POMT1 POMT2 SEPN1 SGCA SGCB SGCD SGCG STIM1 SYNE1 TCAP TMEM5 TOR1AIP1 TRAPPC11 TRIM32
Source: Medical Genetics Center

Childhood: Muscle Weakness with Normal or Slightly Elevated CK / Congenital Myopathies

Multi Gene Panel (48 Genes)
Targeted genes:
ACTA1 AGRN ALG14 ALG2 BICD2 BIN1 CCDC78 CFL2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL6A1 COL6A2 COL6A3 COLQ DNM2 DOK7 DPAGT1 DYNC1H1 FHL1 FKBP14 FKRP GAA GBE1 GFPT1 KBTBD13 KLHL40 LIMS2 LRP4 MTM1 MUSK MYH7 NEB PREPL PTRF RAPSN RYR1 SEPN1 SNAP25 STIM1 TK2 TNNT1 TNPO3 TNXB TPM2 TPM3
Source: Medical Genetics Center

Congenital muscular dystrophies (NGS panel)

Targeted genes (31): ANO5, CHKB, COL6A1, COL6A2, COL6A3, DMD, DNM2, DPM2, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, ISPD, ITGA7, LAMA2, LARGE, LMNA, PABPN1, POMGNT1, POMT1, POMT2, PTRF, SEPN1, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TTN

Source: CGC Genetics

Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies

Multi Gene Panel (7 Genes)
Targeted genes: COL12A1 COL6A1 COL6A2 COL6A3 FKBP14 PIEZO2 TNXB
Source: Medical Genetics Center

CONGENITAL MUSCULAR DYSTROPHY SEQUENCING PANEL

Targeted Genes
CHKB COL6A1 COL6A2 COL6A3 DAG1 DPM2 DPM3 FKRP FKTN GAA ISPD ITGA7 LAMA2 LARGE LMNA POMGNT1 POMGNT2 (GTDC2) POMK POMT1 POMT2 RYR1 SEPN1 SYNE1 TMEM5

Disorders
Congenital Muscular Dystrophy
Muscular Dystrophy

Source: UCGS

Congenital Myasthenia Syndromes Panel

Targeted genes: AGRN, ALG2, CHAT , CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A

Source: GeneDx

Congenital Myasthenic Syndrome (CMS)

Multi Gene Panel (17 Genes)
Targeted genes: AGRN ALG14 ALG2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 GFPT1 LRP4 MUSK PREPL RAPSN SNAP25
Source: Medical Genetics Center

Congenital myasthenic syndrome panel

Targeted genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A

Source: Centogene

CONGENITAL MYASTHENIC SYNDROME SEQUENCING PANEL

Targeted Genes
AGRN ALG14 ALG2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 GFPT1 LRP4 MUSK PREPL RAPSN SCN4A SYT2

Source: UCGS

Congenital Myopathies & Muscular Dystrophies Panel

Targeted genes: ACTA1, BICD2, CFL2, CHKB, COL6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, KBTBD13, LAMA2, LMNA, MEGF10, MTM1, NEB, RYR1, SEPN1, SYNE1, TNNT1, TPM2, TPM3

Disorders:
Congenital Muscular Dystrophy (CMD)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Limb-Girdle Muscular Dystrophy (LGMD)
Nemaline Myopathy
Ullrich CMD/Bethlem Myopathy
Walker–Warburg Syndrome

Source: GeneDx

Congenital myopathy panel

Targeted genes: ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3

Source: Centogene

CONGENITAL MYOPATHY SEQUENCING PANEL

Targeted Genes
ACTA1 BIN1 CCDC78 CFL2 CNTN1 DNM2 KBTBD13 LMOD3 MTM1 MYF6 MYH7 NEB PTPLA RYR1 SEPN1 TNNT1 TPM2 TPM3 TTN

Source: UCGS

CONGENITAL MYOPATHY WITH PROMINENT CONTRACTURES SEQUENCING PANEL

Targeted Genes
COL6A1 COL6A2 COL6A3 EMD LMNA MYH7 RYR1 SEPN1 SYNE1 SYNE2 TMEM43

Disorders
Congenital Myopathy with Prominent Contractures
Congenital myopathy

Source: UCGS

Distal Hereditary Myopathy NGS Panel

Targeted Genes: ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, TCAP, TTN, VCP
Source: Fulgent Diagnostics

Dystonia (NGS panel)

Targeted genes (43): ACTB, ANO3, ARSA, ATM, ATP1A3, ATP7B, AUH, BCAP31, CACNA1B, COL6A3, DDC, DRD2, FTL, GCDH, GCH1, GNAL, HEXA, HPCA, KCNMA1, KCTD17, MECP2, MR1, NPC1, NPC2, PANK2, PARK2, PLA2G6, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SLC30A10, SLC6A3 , SMPD1, SPR, TAF1, TH, THAP1, TIMM8A, TOR1A, TUBB4A, VPS13A

Source: CGC Genetics

Dystonia Dyskinesia NGS Panel

Targeted Genes: ATP1A3, DRD2, DRD5, MR1, PNKD, PRKRA, PRRT2, SCP2, SGCE, SLC6A3, SPR, TAF1, THAP1, TOR1A
Source: Fulgent Diagnostics

Dystonia panel

Targeted genes: TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, CIZ1, PRRT2, PNKD

Source: Centogene

Emery-Dreifuss Muscular Dystrophy

Multi Gene Panel (6 Genes)
Targeted genes: EMD FHL1 LMNA SYNE1 SYNE2 TMEM43
Source: Medical Genetics Center

Histological Myofibrillar Myopathy

Multi Gene Panel (12 Genes)
Targeted genes: BAG3 CRYAB DES FHL1 FLNC GNE LDB3 LMNA MYOT PLEC TTN VCP
Source: Medical Genetics Center

Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy

Multi Gene Panel (15 Genes)
Targeted genes: ACTA1 BIN1 CCDC78 CFL2 DNM2 KBTBD13 KLHL40 MTM1 MTMR14 NEB RYR1 SEPN1 TNNT1 TPM2 TPM3
Source: Medical Genetics Center

Limb-girdle muscular dystrophies (NGS panel)

Targeted genes (26): ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN

Source: CGC Genetics

Limb-Girdle Muscular Dystrophy NGS Panel

Targeted Genes: ANO5, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, ISPD, LMNA, MYOT, PNPLA2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN
Source: Fulgent Diagnostics

Limb-girdle muscular dystrophy panel

Targeted genes: ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SEPN1, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN (Hotspot testing)

Source: Centogene

Limb-Girdle Muscular Dystrophy Panel

Targeted genes: ANO5, CAPN3, CAV3, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, LMNA, MYOT, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRIM32, TTN

Disorders:
Limb-Girdle Muscular Dystrophy (LGMD)
Walker–Warburg Syndrome

Source: GeneDx

LIMB-GIRDLE MUSCULAR DYSTROPHY SEQUENCING PANEL

Targeted Genes
ANO5 CAPN3 CAV3 DAG1 DES DNAJB6 DYSF FKTN FLNC FRKP GAA GMPPB HNRNPDL ISPD LIMS2 LMNA MYOT PLEC POMGNT1 POMK POMT1 POMT2 SGCA SGCB SGCD SGCG TCAP TNPO3 TRAPPC11 TRIM32 TTN

Source: UCGS

Metabolic myopathies panel

Targeted genes: ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ

Source: Centogene

Muscle Disease with CNS Involvement

Multi Gene Panel (26 Genes)
Targeted genes: B3GALNT2 B3GNT1 CCDC78 CHKB DPM2 FKRP FKTN GMPPB ISPD LAMA2 LAMP2 LARGE MICU1 MYH7 POMGNT1 POMGNT2 POMK POMT1 POMT2 SIL1 SNAP25 STAC3 SYNE1 TMEM5 TRAPPC11 TTN
Source: Medical Genetics Center

Muscle Disease with Contractures and/or Rigid Spine

Multi Gene Panel (26 Genes)
Targeted genes: ACTA1 CAPN3 CFL2 COL6A1 COL6A2 COL6A3 DNM2 EMD FHL1 GAA KBTBD13 KLHL40 LAMA2 LMNA NEB PIEZO2 RAPSN RYR1 SEPN1 SYNE1 SYNE2 TMEM43 TNNT1 TOR1AIP1 TPM2 TPM3
Source: Medical Genetics Center

Muscle Disease with Distal Myopathy

Multi Gene Panel (28 Genes)
Targeted genes: AGL AGRN ANO5 BAG3 BICD2 CAPN3 CAV3 CCDC78 CHRNA1 CHRNB1 CHRND CHRNE CRYAB DES DYSF FHL1 FLNC GNE LDB3 MATR3 MYH14 MYH7 MYOT PNPLA2 TCAP TIA1 TTN VCP
Source: Medical Genetics Center

Muscle Disease with FSHD Phenocopies

Multi Gene Panel (5 Genes)
Targeted genes: CAPN3 FHL1 SGCA SMCHD1 VCP
Source: Medical Genetics Center

Muscle Disease with Ptosis / External Ophthalmoplegia

Multi Gene Panel (26 Genes)
Targeted genes: AGRN ALG14 ALG2 C10orf2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DNM2 DOK7 DPAGT1 GFPT1 KIF21A LRP4 MTM1 MUSK POLG POLG2 PREPL RAPSN RRM2B RYR1 SLC25A4 TUBB3
Source: Medical Genetics Center

Muscle Weakness (Myopathy, Muscular Dystrophy)

Multi Gene Panel (179 Genes)
Targeted genes: AARS ABHD5 ACAD9 ACADM ACADS ACADVL ACTA1 AGK AGL AGRN ALG14 ALG2 AMACR AMPD1 ANO5 B3GALNT2 B3GNT1 BAG3 BICD2 BIN1 C10orf2 CACNA1S CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNTN1 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COX15 CPT1A CPT2 CRYAB CUL4B DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM2 DYNC1H1 DYSF EGR2 EMD ETFA ETFB ETFDH FDX1L FHL1 FKBP14 FKRP FKTN FLNC GAA GARS GBE1 GDAP1 GFM1 GFPT1 GLRA1 GLRB GMPPB GNE GOSR2 HADH HADHA HADHB HINT1 HNRNPU HSPG2 IGHMBP2 ISCU ISPD ITGA7 KBTBD13 KIF21A KLHL40 LAMA2 LAMP2 LARGE LAS1L LDB3 LIMS2 LMNA LPIN1 LRP4 MATR3 MEGF10 MFN2 MICU1 MPZ MTM1 MTMR14 MTO1 MUSK MYBPC1 MYF6 MYH14 MYH2 MYH7 MYOT NEB NEFL ORAI1 PFKM PGK1 PGM1 PHOX2B PIEZO2 PLEC PNPLA2 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PTRF PUS1 PYGM RAPSN RRM2B RYR1 SCN4A SCO2 SDHA SEPN1 SEPT9 SGCA SGCB SGCD SGCG SIL1 SLC22A5 SLC25A20 SLC25A3 SLC25A4 SLC52A3 SLC6A5 SMCHD1 SNAP25 STAC3 STIM1 SYNE1 SYNE2 TAZ TCAP TIA1 TK2 TMEM43 TMEM5 TMEM70 TNNT1 TNPO3 TNXB TOR1AIP1 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN TTR TUBB3 UBA1 VCP
Source: Medical Genetics Center

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR)

Multi Gene Panel (90 Genes)
Targeted genes: ABHD5 ACADM ACADVL ACTA1 AGL ANO5 BAG3 BICD2 CAPN3 CAV3 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB DES DMD DNAJB6 DNM2 DOK7 DYNC1H1 DYSF EMD ETFA ETFB ETFDH FHL1 FKRP FKTN FLNC GAA GBE1 GFPT1 GMPPB GNE HADH HADHA HADHB HINT1 HNRNPU ISCU LAMP2 LARGE LDB3 LIMS2 LMNA LPIN1 MATR3 MTM1 MYH2 MYH7 MYOT NEB PLEC PNPLA2 POLG POMGNT1 POMT1 POMT2 PUS1 PYGM RAPSN RRM2B RYR1 SCN4A SEPN1 SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1 TK2 TMEM43 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TRPV4 TTN VCP
Source: Medical Genetics Center

Muscular Dystrophies NGS Panel

Targeted Genes: (40) ANO5, B4GAT1, CAPN3, CAV3, CHKB, DAG1, DES, DMD, DNAJB6, DPM1, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GOSR2, ISPD, ITGA7, LAMA2, LARGE, LMNA, MMEL1, MYOT, PNPLA2, POMGNT1, POMGNT2, POMT1, POMT2, PTRF, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TTN
Source: Fulgent Diagnostics

Myasthenic syndrome, congenital

Targeted genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, SYT2

Source: CGC Genetics

Myasthenic syndrome fast channel congenital (NGS panel)

Targeted genes: AGRN, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, MUSK, RAPSN

Source: CGC Genetics

Myoclonic dystonia panel

Targeted genes: SGCE, DRD2, TOR1A

Source: Centogene

Myofibrillar Myopathy NGS Panel

Targeted Genes: BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
Source: Fulgent Diagnostics

Myofibrillar myopathy panel

Targeted genes: BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT

Source: Centogene

Myofibrillar Myopathy Panel

Targeted genes: BAG3, CRYAB , DES, DNAJB6, FHL1, FLNC, LDB3 (ZASP), MYOT

Source: GeneDx

Myopathy-Rhabdomyolysis NGS Panel

Targeted Genes: ACAD9, ACADL, ACADM, ACADVL, AGL, AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP
Source: Fulgent Diagnostics

Myopathy-rhabdomyolysis syndrome panel

Targeted genes: ACADL, ACADM, ACADVL, ACAD9, AGL, AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP

Source: Centogene

Nemaline Myopathy NGS Panel

Targeted Genes: ACTA1, CFL2, KBTBD13, NEB, TNNT1, TPM2, TPM3
Source: Fulgent Diagnostics

Nemaline myopathy panel

Targeted genes: NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3

Source: Centogene

Neuromuscular Disorders Panel

Targeted genes: ACTA1, ANO5, ATP2A1, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB , DAG1, DES, DMD, DNAJB6, DNM2 , DPM1, DPM2, DPM3, DYNC1H1 , DYSF, EMD, FHL1, FKRP, FKTN, FLCN, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3 (ZASP), LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5 , POMGNT1, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4 , TTN, UBA1, VRK1

Disorders:
Becker Muscular Dystrophy (BMD)
Danon Disease
Duchenne Muscular Dystrophy (DMD)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Hereditary Inclusion Body Myopathy (HIBM)
Limb-Girdle Muscular Dystrophy (LGMD)
Muscular Dystrophy-Dystroglycanopathy (LGMD)
Myofibrillar Myopathy (MFM)
Myotonia Congenita
Nemaline Myopathy
Ullrich CMD/Bethlem Myopathy
Walker–Warburg Syndrome

Source: GeneDx

NEUROMUSCULAR DISORDERS SEQUENCING PANEL

Targeted Genes
ACTA1 AGRN ALG14 ALG2 ANO5 BAG3 BIN1 CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CNTN1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DAG1 DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM2 DPM3 DYSF EMD FHL1 FKRP FKTN FLNC GAA GFPT1 GMPPB GNE HNRNPDL ISPD ITGA7 KBTBD13 LAMA2 LARGE LDB3 LIMS2 LMNA LMOD3 LRP4 MTM1 MUSK MYF6 MYH7 MYOT NEB PLEC POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PTPLA RAPSN RYR1 SCN4A SEPN1 SGCA SGCB SGCD SGCG SYNE1 SYNE2 SYT2 TCAP TMEM43 TMEM5 TNNT1 TNPO3 TPM2 TPM3 TRAPPC11 TRIM32 TTN VCP

Disorders
Bethlem myopathy
Central Core Disease Centronuclear myopathy
Congenital fiber type disproportion
Congenital Muscular Dystrophy
Congenital Myasthenic Syndromes
Congenital myopathy
Duchenne muscular dystrophy
Emery-Dreifuss Muscular Dystrophy
Inclusion body myopathy
Laing distal myopathy
Limb-Girdle Muscular Dystrophy
Muscular Dystrophy
Myofibrillar myopathy
Nemaline myopathy
Pompe disease
Ullrich congenital muscular dystrophy

Source: UCGS

Neuromuscular NGS Panel

Targeted Genes: (50) ACTA1, AMPD1, AMPD3, ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DES, DMD, DYSF, EMD, FKRP, FKTN, ITGA7, LAMA2, LARGE, LMNA, MYOT, NEB, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PLEC, PMM2, POMGNT1, POMT1, POMT2, RYR1, RYR2, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, TCAP, TNNI2, TNNT1, TPM2, TPM3, TRIM32, TTN
Source: Fulgent Diagnostics

Newborn: Neonatal Apneas

Multi Gene Panel (13 Genes)
Targeted genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ GLRA1 GLRB LAS1L PHOX2B RAPSN SCN4A SLC6A5
Source: Medical Genetics Center

Newborn: “Floppy Infant “

Multi Gene Panel (73 Genes)
Targeted genes: ACTA1 AGRN ALG14 ALG2 B3GALNT2 B3GNT1 BICD2 BIN1 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CNTN1 COL6A1 COL6A2 COL6A3 COLQ CUL4B DNM2 DOK7 DPAGT1 DPM2 EGR2 FKBP14 FKRP FKTN GAA GARS GBE1 GDAP1 GFPT1 GMPPB IGHMBP2 ISPD ITGA7 KBTBD13 KLHL40 LAMA2 LAMP2 LARGE LAS1L LMNA MEGF10 MFN2 MPZ MTM1 MUSK NEB NEFL PLEC POMGNT1 POMGNT2 POMK POMT1 POMT2 RAPSN RYR1 SCN4A SEPN1 SLC52A3 SYNE1 TCAP TMEM5 TNNT1 TPM2 TPM3 TRPV4 TTN UBA1
Source: Medical Genetics Center

Sarcoglycanopathies (NGS panel)

Targeted genes: SGCA, SGCB, SGCD, SGCG, SGCE

Source: CGC Genetics

Spinal muscular atrophy (NGS panel)

Targeted genes (21): ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC8, FBXO38, GARS, HSPB8, IGHMBP2, PLEKHG5, REEP1, SCO2, SLC5A7, TRPV4, UBA1, VAPB, VRK1

Source: CGC Genetics

Syndromic Congenital Muscular Dystrophy Panel

Targeted genes: B3GALNT2, B3GNT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, LMNA, POMGNT1, POMT1, POMT2, TMEM5, VRK1

Disorders:
Emery-Dreifuss Muscular Dystrophy (EDMD)
Limb-Girdle Muscular Dystrophy (LGMD)
Muscular Dystrophy-Dystroglycanopathy (LGMD)
Walker–Warburg Syndrome

Source: GeneDx

Ullrich muscular dystrophy panel

Targeted genes: COL6A1, COL6A2, COL6A3

Source: Centogene

Walker-Warburg syndrome panel

Targeted genes: FKRP, FKTN, ISPD, LARGE, POMT1, POMT2

Source: Centogene


Selcen D (2008) Myofibrillar myopathies |PubMed|

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