Skip to content
      • Agrogenomics area
      • Covid-19 Services
      • Client site
      • ES
      • EN
      • Client SITE
        Portal Bio Portal Agro
      HealthincodeHealthincode
      • Client SITE
        Portal Bio Portal Agro
        • Services
          Clinical areas
          Analysis kits
          • Cardiology
          • Oncology
          • Neurology
          • Pneumology
          • Immunology
          • Hematology
          • Nephropathies
          • Pharmacogenetics
          • Early atherosclerosis, endocrine disorders, and inborn errors of metabolism
        • Services
          • Clinical areas
            • Cardiology
            • Oncology
            • Neurology
            • Early atherosclerosis, endocrine disorders, and inborn errors of metabolism
            • Pneumology
            • Immunology
            • Hematology
            • Nephropathies
            • Pharmacogenetics
          • Analysis kits
        • About Health in Code
          • Who we are
          • Our team
          • Quality
        • R&D
        • News
        • Contact
          Home / Clinical areas / Neurology / Genetic Muscle Disorders [GMD] / Structural myopathies

          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.

          Request study Informed consent
          Steps to follow
          Steps to follow

          How to order

          1. Download & fill out

          Please cover as many fields as possible in both documents

          2. Sample collection

          Three sample types: saliva, peripheral blood or genomic DNA

          3. Pack the sample

          Please pack the sample in a way to prevent leakage

          4. Send the sample & the request

          Please schedule the delivery for Mon–Thur: 8am – 5pm

          5. Result: the report

          Via: Client Site HIC / Client Site Imegen / Certified email

          Ask for information
          Solicita información de

          GMD comprehensive panel


          • *

          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.

          Our offices
          • A Coruña
          • Madrid
          • Valencia
          • Granada
          • Málaga
          Our websites
          • Health [in] Code
          • Genycell Biotech
          • Imegen
          Contact
          • Contact form
          • Work with us
          • info@healthincode.com
          interactive experience by dıgıtıs
          • Legal note
          • Privacy Policy
          • License
          © 2022 Healthincode
          • Services
          • Services
            • Clinical areas
              • Cardiology
              • Oncology
              • Neurology
              • Early atherosclerosis, endocrine disorders, and inborn errors of metabolism
              • Pneumology
              • Immunology
              • Hematology
              • Nephropathies
              • Pharmacogenetics
            • Analysis kits
          • About Health in Code
            • Who we are
            • Our team
            • Quality
          • R&D
          • News
          • Contact
          • Agrogenomics area
          • Covid-19 Services
          • Client site
          • ES
          • EN

          We are using cookies to give you the best experience on our website.

          You can find out more about which cookies we are using or switch them off in settings.

          Login

          Lost your password?

          Powered by  GDPR Cookie Compliance
          Privacy Overview

          This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

          Strictly Necessary Cookies

          Strictly Necessary Cookie should be enabled at all times so that we can save your preferences for cookie settings.

          If you disable this cookie, we will not be able to save your preferences. This means that every time you visit this website you will need to enable or disable cookies again.

          3rd Party Cookies

          This website uses Google Analytics to collect anonymous information such as the number of visitors to the site, and the most popular pages.

          Keeping this cookie enabled helps us to improve our website.

          Please enable Strictly Necessary Cookies first so that we can save your preferences!