GMD comprehensive panel [330 genes]

By structural, we refer to those forms of muscular involvement that alter the primary structure of muscle fibers and result in their incorrect functioning.

For the initial approach to patients with these disorders, we distinguish two main groups depending on when symptoms appear:

  • Congenital structural muscle disorders (present at birth)
  • Structural muscle diseases in children and adults

For a broader approach to patients with structural genetic muscle disorders, including both congenital and those with childhood and adult onset, a comprehensive panel including 133 related genes has been developed.

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Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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GMD comprehensive panel

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Turnaround time (TAT): 6 weeks

Ref. S-202008374

GMD comprehensive panel: View panel
  • AARS2
  • ABCC9
  • ABHD5
  • ACAD9
  • ACADM
  • ACADS
  • ACADVL
  • ACTA1
  • ACTN2
  • ADCY6
  • ADGRG6
  • ADSSL1
  • AGK
  • AGL
  • AGRN
  • AIFM1
  • ALDOA
  • ALG14
  • ALG2
  • ALG3
  • AMPD1
  • ANO5
  • ANTXR2
  • ARX
  • ASCC1
  • ATAD1
  • ATP1A2
  • ATP2A1
  • ATP7A
  • B3GALNT2
  • B4GAT1
  • BAG3
  • BCS1L
  • BICD2
  • BIN1
  • BVES
  • C12orf65
  • C1QBP
  • CACNA1E
  • CACNA1H
  • CACNA1S
  • CAPN3
  • CASQ1
  • CAV3
  • CAVIN1
  • CCDC78
  • CFL2
  • CHAT
  • CHCHD10
  • CHKB
  • CHRNA1
  • CHRNB1
  • CHRND
  • CHRNE
  • CHRNG
  • CHST14
  • CHST3
  • CLCN1
  • CLN3
  • CNTN1
  • CNTNAP1
  • COG8
  • COL12A1
  • COL13A1
  • COL4A1
  • COL6A1
  • COL6A2
  • COL6A3
  • COLQ
  • COQ2
  • COQ8A
  • COQ9
  • COX10
  • COX15
  • COX6A2
  • CPT2
  • CRYAB
  • DAG1
  • DES
  • DGUOK
  • DMD
  • DNAJB6
  • DNM2
  • DOK7
  • DOLK
  • DPAGT1
  • DPM1
  • DPM2
  • DPM3
  • DYNC1H1
  • DYSF
  • EARS2
  • ECEL1
  • ECHS1
  • EMD
  • ENO3
  • ERBB3
  • ERGIC1
  • ETFA
  • ETFB
  • ETFDH
  • ETHE1
  • FAM111B
  • FARS2
  • FBN1
  • FBN2
  • FBXL4
  • FDX2
  • FHL1
  • FKRP
  • FKTN
  • FLAD1
  • FLNC
  • FOXRED1
  • FXR1
  • GAA
  • GATM
  • GBE1
  • GFER
  • GFM1
  • GFPT1
  • GLDN
  • GLE1
  • GMPPB
  • GNE
  • GOSR2
  • GYG1
  • GYS1
  • HACD1
  • HADHA
  • HADHB
  • HINT1
  • HNRNPA1
  • HNRNPA2B1
  • HNRNPDL
  • HRAS
  • HSPB1
  • HSPB8
  • HSPG2
  • IARS2
  • INPP5K
  • ISCU
  • ISLR2
  • ISPD
  • ITGA7
  • KBTBD13
  • KCNA1
  • KCNJ2
  • KCNJ5
  • KIAA1109
  • KIF14
  • KLHL24
  • KLHL40
  • KLHL41
  • KLHL9
  • KY
  • LAMA2
  • LAMA5
  • LAMB2
  • LAMP2
  • LARGE1
  • LDB3
  • LDHA
  • LGI4
  • LIMS2
  • LIPT1
  • LMNA
  • LMOD3
  • LPIN1
  • LRP4
  • LRPPRC
  • MAGEL2
  • MAP3K20
  • MATR3
  • MB
  • MEGF10
  • MET
  • MGME1
  • MICU1
  • MSTO1
  • MTM1
  • MUSK
  • MYBPC1
  • MYH2
  • MYH3
  • MYH7
  • MYH8
  • MYL1
  • MYL2
  • MYMK
  • MYO18B
  • MYO9A
  • MYOD1
  • MYOT
  • MYPN
  • NALCN
  • NDUFA9
  • NDUFAF6
  • NDUFS4
  • NEB
  • NEK9
  • NMNAT2
  • NUP88
  • OPA1
  • ORAI1
  • PABPN1
  • PAX7
  • PDHA1
  • PDHB
  • PDHX
  • PFKM
  • PGAM2
  • PGK1
  • PGM1
  • PHKA1
  • PHKA2
  • PHKB
  • PHKG2
  • PI4KA
  • PIEZO2
  • PIP5K1C
  • PLEC
  • PMM2
  • PNPLA2
  • PNPLA8
  • PNPT1
  • POGLUT1
  • POLG
  • POLG2
  • POMGNT1
  • POMGNT2
  • POMK
  • POMT1
  • POMT2
  • PPP3CA
  • PREPL
  • PRKAG2
  • PTRH2
  • PUS1
  • PYGM
  • PYROXD1
  • RAPSN
  • RBCK1
  • RNASEH1
  • RPH3A
  • RRM2B
  • RXYLT1
  • RYR1
  • RYR3
  • SCN4A
  • SCO2
  • SDHA
  • SDHAF1
  • SELENON
  • SGCA
  • SGCB
  • SGCD
  • SGCG
  • SIL1
  • SLC16A2
  • SLC18A3
  • SLC19A3
  • SLC22A5
  • SLC25A1
  • SLC25A20
  • SLC25A3
  • SLC25A32
  • SLC25A4
  • SLC25A42
  • SLC35A3
  • SLC52A2
  • SLC52A3
  • SLC5A7
  • SLC6A8
  • SLC6A9
  • SMCHD1
  • SNAP25
  • SPEG
  • SPTBN4
  • SQSTM1
  • SRPK3
  • STAC3
  • STIM1
  • SUCLA2
  • SUCLG1
  • SURF1
  • SYNE1
  • SYNE2
  • SYT2
  • TANGO2
  • TAZ
  • TCAP
  • TIA1
  • TK2
  • TMEM126B
  • TMEM43
  • TMEM65
  • TNNI2
  • TNNT1
  • TNNT3
  • TNPO3
  • TOR1A
  • TOR1AIP1
  • TPM2
  • TPM3
  • TRAPPC11
  • TRIM32
  • TRIM54
  • TRIM63
  • TRIP4
  • TRPV4
  • TSFM
  • TTC19
  • TTN
  • TUBB2A
  • TUBB2B
  • TWNK
  • TYMP
  • UBA1
  • UNC50
  • VAMP1
  • VCP
  • VIPAS39
  • VMA21
  • VPS33B
  • XK
  • YARS2
  • ZBTB42
  • ZC4H2
  • ZMPSTE24

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
GMD comprehensive panel [330 genes]

References

  • Darras BT, Menache-Stroninki CC, Hinton V, Kunkel LM. Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician’s Approach, 2nd ed, Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (Eds), Academic Press, San Diego 2015.
  • Emery AE. The muscular dystrophies. Lancet 2002; 359:687-95.
  • Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101:155-66.
  • Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013; 113:1321-26.
  • Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21:569-75.
  • Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161-71.
  • Sharma MC, Jain D, Sarkar C, Goebel HH. Congenital myopathies–a comprehensive update of recent advancements. Acta Neurol Scand. 2009 May;119(5):281-92.
  • Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn) 2013; 19:1535-70.