- Genetic tests
- Hypertrophic cardiomyopathy (gene panel)
Hypertrophic cardiomyopathy (gene panel)
Full name: |
Hypertrophic cardiomyopathy (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2022-10-07 / 2027-10-06
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Turnaround time (maximum): |
20-60 days
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Document(s): | |
Created: |
07 Aug 2019 - 11:09
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Changed: |
22 Jan 2024 - 09:46
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- Congenital fiber-type disproportion myopathy
- Fabry disease
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Familial isolated dilated cardiomyopathy
- Familial isolated restrictive cardiomyopathy
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- Glycogen storage disease due to LAMP-2 deficiency
- Left ventricular noncompaction
- ACADVL
- ACTA1
- ACTC1
- ACTN2
- AGL
- ALPK3
- ANKRD1
- ATAD3A
- ATP5F1E
- BRAF
- CACNA1C
- CALR3
- CASQ2
- CAV3
- COA5
- CRYAB
- CSRP3
- DES
- FHL1
- FHOD3
- FLNC
- FOXRED1
- FXN
- GAA
- GLA
- GLB1
- GUSB
- GYG1
- HRAS
- JPH2
- KCNQ1
- KLF10
- LAMP2
- LDB3
- LMNA
- LZTR1
- MAP2K1
- MAP2K2
- MIB1
- MRPL3
- MT-TI
- MT-TL1
- MYBPC3
- MYH6
- MYH7
- MYL2
- MYL3
- MYLK2
- MYO6
- MYOM1
- MYOZ2
- MYPN
- NEXN
- NRAS
- PDLIM3
- PLN
- PRKAG2
- PTPN11
- RAF1
- RYR2
- SCO2
- SLC25A3
- SLC25A4
- SOS1
- TCAP
- TMEM70
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TRIM63
- TSFM
- TTN
- TTR
- VCL
-
Hypertrophic cardiomyopathy (75 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTC1 100.00 1 NM_005159.5 ACTN2 100.00 1 NM_001103.3 ALPK3 100.00 1 NM_020778.5 CSRP3 100.00 1 NM_003476.5 GLA 100.00 1 NM_000169.3 JPH2 100.00 1 NM_020433.5 LAMP2 100.00 1 NM_002294.3 LMNA 100.00 1 NM_170707.4 MYBPC3 100.00 1 NM_000256.3 MYH6 100.00 1 NM_002471.3 MYH7 100.00 1 NM_000257.4 MYL2 100.00 1 NM_000432.4 MYL3 100.00 1 NM_000258.3 PLN 100.00 1 NM_002667.5 PRKAG2 100.00 1 NM_016203.4 TNNC1 100.00 1 NM_003280.3 TNNI3 100.00 1 NM_000363.5 TNNT2 100.00 1 NM_001276345.2 TPM1 100.00 1 NM_001018005.2 TTR 100.00 1 NM_000371.4 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 AGL 100.00 1 NM_000642.3 ANKRD1 100.00 1 NM_014391.2 ATAD3A 100.00 1 NM_001170535.3 ATP5F1E 100.00 1 NM_006886.4 BRAF 100.00 1 NM_001354609.2 CACNA1C 100.00 1 NM_000719.7 CALR3 100.00 1 NM_145046.5 CASQ2 100.00 1 NM_001232.3 CAV3 100.00 1 NM_033337.3 COA5 100.00 1 NM_001008215.3 CRYAB 100.00 1 NM_001289808.2 DES 100.00 1 NM_001927.4 FHL1 100.00 1 NM_001159699.2 FHOD3 100.00 1 NM_001281740.3 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FXN 100.00 1 NM_000144.5 GAA 100.00 1 NM_000152.5 GLB1 100.00 1 NM_000404.4 GUSB 100.00 1 NM_000181.4 GYG1 100.00 1 NM_004130.4 HRAS 100.00 1 NM_005343.4 KCNQ1 100.00 1 NM_000218.3 KLF10 100.00 1 NM_005655.4 LDB3 100.00 1 NM_001171610.2 LZTR1 100.00 1 NM_006767.4 MAP2K1 100.00 1 NM_002755.4 MAP2K2 100.00 1 NM_030662.4 MIB1 100.00 1 NM_020774.3 MRPL3 100.00 1 NM_007208.4 MT-TI 100.00 1 MT-TL1 100.00 1 MYLK2 100.00 1 NM_033118.4 MYO6 100.00 1 NM_004999.4 MYOM1 100.00 1 NM_003803.4 MYOZ2 100.00 1 NM_016599.5 MYPN 100.00 1 NM_032578.3 NEXN 100.00 1 NM_144573.3 NRAS 100.00 1 NM_002524.5 PDLIM3 100.00 1 NM_014476.6 PTPN11 100.00 1 NM_002834.5 RAF1 100.00 1 NM_001354689.3 RYR2 100.00 1 NM_001035.3 SCO2 100.00 1 NM_005138.3 SLC25A3 100.00 1 NM_002635.4 SLC25A4 100.00 1 NM_001151.4 SOS1 100.00 1 NM_005633.3 TCAP 100.00 1 NM_003673.4 TMEM70 100.00 1 NM_017866.6 TRIM63 100.00 1 NM_032588.3 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 VCL 100.00 1 NM_014000.3