ENDGF564 – GenoMed https://genomed.pt GenoMed Thu, 18 May 2023 10:09:54 +0000 en-GB hourly 1 https://wordpress.org/?v=6.1.8 https://genomed.pt/wp-content/uploads/2020/06/cropped-favicon-genomed-32x32.png ENDGF564 – GenoMed https://genomed.pt 32 32 Vascular and lymphatic malformations: gene panel https://genomed.pt/en/vascular-and-lymphatic-malformations-gene-panel/ Sun, 08 May 2022 22:03:41 +0000 https://genomed.pt/?p=114250
Speciality(ies) / Other Speciality(ies)

Hematology

Cardiology, Neurology, Pediatrics

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM
Gene Number

63

Test / Mutation List

ACVRL1, ADAMTS13, ADAMTS3, AKT1, AKT3, ANTXR1, ATM, BMPR2, BRAF, CAV1, CBL, CCBE1, CCM2, DOCK6, ELMO2, ENG, EPHB4, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, GLMN, GNAQ, KCNK3, KDR, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP3K3, MTOR, NF1, NF2, NRAS, PDCD10, PDGFRB, PIEZO1, PIK3CA, PTEN, PTPN11, RAF1, RASA1, RIT1, SHOC2, SMAD2, SMAD3, SMAD4, SMARCB1, SOS1, SOX18, SPRED1, STAMBP, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TSC1, TSC2, VEGFC

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

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