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Noonan syndrome and cardiomyopathies
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Noonan syndrome and cardiomyopathies

For any questions regarding clinical issues, please get in contact with Prof. Dr. C. Netzer, MD (+49-221-478-89586, [Email protection active, please enable JavaScript.]). The panel diagnostics request form for Noonan syndrome and cardiomyopathies is available here.

 

Noonan syndrome

PTPN11-single gene analysis (#057): First diagnostic step according to German EBM
(1 gene, 1.8 kb)

 

standard panel (#008): All other genes associated with Noonan syndrome, second diagnostic step, genes according to Genereviews
A2ML1, BRAF, KRAS, LZTR1, MAP2K1, NRAS, RAF1, RASA2, RIT, RRAS, SOS1, SOS2
(12 genes, 25.65 kb)

 

standard panel (#009): All genes associated with Noonan syndrome according to Genereviews, without stepwise diagnostics (in urgent cases)
A2ML1, BRAF, KRAS, LZTR1, MAP2K1, NRAS, PTPN11, RAF1, RASA2, RIT, RRAS, SOS1, SOS2
(13 genes, 27.1 kb)

 

single gene diagnostics:
PTPN11, RIT

 

Hypertrophic cardiomyopathy / HCM

standard panel  (#001): Main genes for HCM according to ESC Guidelines 2014, except TTN
ACTC1, CSRP3, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNI3, TNNT2, TPM1
(13 genes, 19.2 kb)  

 

complete panel (#002): Main genes for HCM according to ESC Guidelines 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)

 

complete panel (#138): All HCM-associated genes according to ESC Guidelines 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, SURF1, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR
(69 genes, 223.5 kb)

 

standard panel (#004): HCM due to mitochondrial deficiencies according to ESC Guidelines 2014
ACAD9, AGK, ATPAF2, COQ2, COX6B1, FXN, LIAS, PDHA1, SURF1, TMEM70
(10 genes, 10.2 kb)

 

standard panel (#005): Fatal infantile HCM due to mitochondrial deficiencies according to ESC Guidelines 2014
AARS2, GFM1, MRPL3, MRPS22, MTO1, TSFM
(6 genes, 10.5 kb)

 

complete panel (#006): HCM due to metabolic disorders according to ESC Guidelines 2014
ACADVL, AGL, AGPAT2, BSCL2, DLD, FAH, GAA, GLB1, GNPTAB, GUSB, MLYCD, PHKA1, PMM2, SLC22A5
(14 genes, 29.6 kb)

 

complete panel (#007): RASopathies with HCM according to ESC Guidelines 2014
A2ML1, BRAF, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT, RRAS, SOS1, SOS2
(16 genes, 37.3 kb)

 

single gene diagnostics:
ACTA1, MYH7, TNNT2, MYBPC3, TNNI3, TPM1