- Genetic tests
- Primary lymphedema / fetal hydrops (gene panel)
Primary lymphedema / fetal hydrops (gene panel)
Full name: |
Primary lymphedema / fetal hydrops (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,
Predictive and Pre-symptomatic diagnosis,
Prenatal diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Turnaround time (maximum): |
3 months
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Document(s): | |
Created: |
25 Jul 2019 - 18:44
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Changed: |
16 Feb 2024 - 16:26
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- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- Capillary malformation-arteriovenous malformation
- Cardiofaciocutaneous syndrome
- Familial cerebral cavernous malformation
- Glomuvenous malformation
- Hennekam syndrome
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- Lymphangioleiomyomatosis
- Lymphedema-distichiasis syndrome
- Lymphedema-posterior choanal atresia syndrome
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Microcephaly-capillary malformation syndrome
- Microcephaly-lymphedema-chorioretinopathy syndrome
- Milroy disease
- Noonan syndrome
- Oculodentodigital dysplasia
- Rendu Osler Weber
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Lymphedema / fetal hydrops (27 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANGPT2 100.00 1 Part of Constitutional vascular panel CCBE1 100.00 1 Part of Constitutional vascular panel CDC42 100.00 1 Part of Constitutional vascular panel EPHB4 100.00 1 Part of Constitutional vascular panel FAT4 100.00 1 Part of Constitutional vascular panel FLT4 100.00 1 Part of Constitutional vascular panel FOXC2 100.00 1 Part of Constitutional vascular panel GATA2 100.00 1 Part of Constitutional vascular panel GJA1 100.00 1 Part of Constitutional vascular panel GJC2 100.00 1 Part of Constitutional vascular panel HGF 100.00 1 Part of Constitutional vascular panel HRAS 100.00 1 Part of Constitutional vascular panel IKBKG 100.00 1 Part of Constitutional vascular panel ITGA9 100.00 1 Part of Constitutional vascular panel KIF11 100.00 1 Part of Constitutional vascular panel KRAS 100.00 1 Part of Constitutional vascular panel NRAS 100.00 1 Part of Constitutional vascular panel PIEZO1 100.00 1 Part of Constitutional vascular panel PTPN11 100.00 1 Part of Constitutional vascular panel PTPN14 100.00 1 Part of Constitutional vascular panel RAF1 100.00 1 Part of Constitutional vascular panel RASA1 100.00 1 Part of Constitutional vascular panel SOS1 100.00 1 Part of Constitutional vascular panel SOX18 100.00 1 Part of Constitutional vascular panel TSC1 100.00 1 Part of Constitutional vascular panel TSC2 100.00 1 Part of Constitutional vascular panel VEGFC 100.00 1 Part of Constitutional vascular panel -
Vascular malformations (germline) (38 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments KRIT1 100.00 1 exons 5 - 20 CCM2 100.00 1 exons 1 - 10 PDCD10 100.00 1 exons 3 - 9 RASA1 100.00 1 exons 1-25 EPHB4 100.00 1 exons 1-17 STAMBP 100.00 1 exons 3-11 PTEN 100.00 1 exons 1-9 ACVRL1 100.00 1 exons 2-10 ENG 100.00 1 exons 1-15 SMAD4 100.00 1 exons 2-12 GDF2 100.00 1 exons 1-2 TEK 100.00 1 exons 1-23 GLMN 100.00 1 exons 2-19 ANGPT2 100.00 1 exons 1-9 CCBE1 100.00 1 exons 1-11 CDC42 100.00 1 exons 2-6 FAT4 100.00 1 exons 1-17 FLT4 100.00 1 exons 1-30 FOXC2 100.00 1 exon 1 GATA2 100.00 1 exons 3-7 GJA1 100.00 1 exon 2 GJC2 100.00 1 exon 2 HGF 100.00 1 exons 1-18 HRAS 100.00 1 exons 2-5 IKBKG 100.00 1 exons 1-10 ITGA9 100.00 1 exons 1-28 KIF11 100.00 1 exons 1-22 KRAS 100.00 1 exons 1-5 NRAS 100.00 1 exons 2-5 PIEZO1 100.00 1 exons 1-51 PTPN11 100.00 1 exons 1-15 PTPN14 100.00 1 exons 2-19 RAF1 100.00 1 exons 2-17 SOS1 100.00 1 exons 1-23 SOX18 100.00 1 exons 1-2 TSC1 100.00 1 exons 3-23 TSC2 100.00 1 exons 1-42 VEGFC 100.00 1 exons 2-7