Noonan syndrome and hypertrophic cardiomyopathy

*= For these genes, an MLPA analysis may be carried out as an additional step in the diagnostics.

Noonan syndrome

PTPN11-single gene analysis (#057): Step 1 of the diagnostics according to EBM number 11355
(1 gene, 1,8 kb)


Small panel (#008): all additional Noonan genes, step 2 f the diagnostics according to EBM number 11356, genes according to GeneReviews (does not require application)

A2ML1, BRAF, KRAS, LZTR1, MAP2K1, NRAS, RAF1, RASA2, RIT, RRAS, SOS1, SOS2
(12 genes, 25,65 kb)


Small panel (#334): all Noonan genes according to GeneReviews, no step-wise diagnostics (in urgent cases)

A2ML1, BRAF, KRAS, LZTR1, MAP2K1, NRAS, PTPN11, RAF1, RASA2, RIT, RRAS, SOS1, SOS2, SPRED1
(14 genes, 28,4 kb)


Single gene diagnostics:

PTPN11, RIT

Hypertrophic cardiomyopathy

Small panel (#001): HCM main genes according to ESC guideline 2014, except TTN

ACTC1, CSRP3, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNI3, TNNT2, TPM1
(13 genes, 19,2 kb)   


Large panel (#002): HCM main genes according to ESC guideline 2014, complete

ACTA1, ACTC1, CRYAB, CSRP3, DES, FHL1, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNI3, TNNT2, TPM1, TTN, TTR
(19 genes, 123,8 kb)


Large panel (#332): all HCM-associated genes according to ESC guideline 2014

A2ML1, AARS2, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, ATPAF2, BRAF, BSCL2, COQ2, COX6B1, CRYAB, CSRP3, DES, DLD, FAH, FLNC, FHL1, FXN, GAA, GFM1, GLA, GLB1, GNPTAB, GUSB, HRAS, KRAS, LAMP2, LIAS, LZTR1, MAP2K1, MAP2K2, MLYCD, MRPL3, MRPS22, MTO1, MYBPC3, MYH7, MYL2, MYL3, MYOZ2, NF1, NRAS, PDHA1, PHKA1, PLN, PMM2, PRKAG2, PTPN11, RAF1, RASA2, RIT, RRAS, SLC22A5, SOS1, SOS2, SPRED1, SURF1, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR
(70 genes, 224,9 kb)


Small panel (#004): HCM due to mitochondrial dysfunction according to ESC guideline 2014

ACAD9, AGK, ATPAF2, COQ2, COX6B1, FXN, LIAS, PDHA1, SURF1, TMEM70
(10 genes, 10,2 kb)


Small panel (#005): fatal infantile HCM with mitochondrial dysfunction according to ESC guideline 2014

AARS2, GFM1, MRPL3, MRPS22, MTO1, TSFM
(6 genes, 10,5 kb)


Large panel (#006): HCM due to metabolic disorder according to ESC guideline 2014

ACADVL, AGL, AGPAT2, BSCL2, DLD, FAH, GAA, GLB1, GNPTAB, GUSB, MLYCD, PHKA1, PMM2, SLC22A5
(14 genes, 29,6 kb)


Large panel (#007): RASopathies with HCM, all genes according to ESC guideline 2014

A2ML1, BRAF, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT, RRAS, SOS1, SOS2, SPRED1
(17 genes, 38,6 kb)


Single gene diagnostics:

ACTA1, COQ2, MYBPC3, MYH7, PTPN11, RIT, TNNI3, TNNT2, TPM1, TTR

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

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Noonan syndrome and hypertrophic cardiomyopathy
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