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Klinische FragestellungKapilläre Fehlbildung - arteriovenöse Fehlbildung, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Kapilläre und Arteriovenöse Fehlbildungen (Differentialdiagnose) mit 2 bzw. 11 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP4949
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 11 |
Untersuchte Sequenzlänge
11,7 kb (Core-/Core-canditate-Gene)
23,2 kb (Erweitertes Panel: inkl. additional genes)
23,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Locipanel
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| EPHB4 | 2964 | NM_004444.5 | AD | |
| GNAQ | 1080 | NM_002072.5 | AD, SMu | |
| PIK3CA | 3207 | NM_006218.4 | n.k. | |
| PTEN | 1212 | NM_000314.8 | AD | |
| RASA1 | 3144 | NM_002890.3 | AD | |
| ACVRL1 | 1512 | NM_000020.3 | AD | |
| ENG | 1878 | NM_000118.3 | AD | |
| GDF2 | 1290 | NM_016204.4 | AD | |
| GLMN | 1785 | NM_053274.3 | AD | |
| SMAD4 | 1659 | NM_005359.6 | AD | |
| TEK | 3375 | NM_000459.5 | AD |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_KP4949
Synonyme
- Alias: Capillary malformation-arteriovenous malformation
- Alias: Naevus flammeus
- Alias: Port-wine stain
- Allelic: Basal cell carcinoma, somatic (RASA1)
- Allelic: Breast cancer, somatic (PIK3CA)
- Allelic: Colorectal cancer, somatic (PIK3CA)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Cowden syndrome 5 (PIK3CA)
- Allelic: Gastric cancer, somatic (PIK3CA)
- Allelic: Glaucoma 3, primary congenital, E (TEK)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Hepatocellular carcinoma, somatic (PIK3CA)
- Allelic: Keratosis, seborrheic, somatic (PIK3CA)
- Allelic: Lymphatic malformation 7 (EPHB4)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Macrodactyly, somatic (PIK3CA)
- Allelic: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
- Allelic: Meningioma (PTEN)
- Allelic: Myhre syndrome (SMAD4)
- Allelic: Nevus, epidermal, somatic (PIK3CA)
- Allelic: Nonsmall cell lung cancer, somatic (PIK3CA)
- Allelic: Ovarian cancer, somatic (PIK3CA)
- Allelic: Pancreatic cancer, somatic (SMAD4)
- Allelic: Polyposis, juvenile intestinal (SMAD4)
- Allelic: Prostate cancer, somatic (PTEN)
- CLAPO [Lopez-Gutierrez] syndrome, somatic (PIK3CA)
- CLOVE [Cong. Lipomatous Overgrowth, Vascular Malformations, Epid. nevi] syndrome, somatic (PIK3CA)
- Capillary malformation-arteriovenous malformation 1 (RASA1)
- Capillary malformation-arteriovenous malformation 2 (EPHB4)
- Capillary malformations, congenital, 1, somatic, mosaic (GNAQ)
- Glomuvenous malformations (GLMN)
- Hypocalcemia, AD 2 (GNA11)
- Hypocalciuric hypercalcemia, type II (GNA11)
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- Lhermitte-Duclos syndrome (PTEN)
- Microcephaly-capillary malformation syndrome (STAMBP)
- Sturge-Weber syndrome, somatic, mosaic (GNAQ)
- Telangiectasia, hereditary hemorrhagic, type 1 (EMNG)
- Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
- Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
- Venous malformations, multiple cutaneous + mucosal (TEK)
Erbgänge, Vererbungsmuster etc.
- AD
- SMu
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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