Føroyakanningin Kanningin umfatar bert 16 ílegu-úrbregði
FØROYAKANNINGIN
Føroyakanningin ger greitt, um tú ert berari av eini ella fleiri av teim kendu sjúkuelvandi ílegubroytingunum, sum serstakliga javnan koma fyri í og hjá føroyingum.
Kanningin umfatar bert 16 ílegu-úrbregði. Tað eru hesi 16, sum elva til tær 12 sjúkurnar, ið vísa seg lutfalsliga ofta í Føroyum. Kanningin kann greiða, um tú ert berari av einum ella fleiri av úrbregðisbroytingunum, ella um tú als ikki er berari.
Kanningin ger greitt, um tú ert berari – og vísir harvið eisini tíní sannlíkindi fyri at geva úrbregðið til tíni børn.
Kanningin umfatar bert 16 ílegu-úrbregði sum elva til 12 kendar ”føroyskar” sjúkur
| SJÚKA | ÌLEGA | VARIANTUR |
|---|---|---|
| Cystisk fibrosa (CF) | CFTR | c.1521-1523delCTT (p.Phe508del) |
| Karnitin transportara trot (CTD) | SLC22A5 | c.95A>G (p.Asp32Ser) |
| Karnitin transportara trot (CTD) | SLC22A5 | c.825-52G>A |
| Karnitin transportara trot (CTD) | SLC22A5 | c.136C>T (p.Pro46Ser) |
| Karnitin transportara trot (CTD) | SLC22A5 | c.131C>T (p.Ala44Val) |
| 3-Methylcrotonyl-CoA carboxylasu 1 trot (MCCCD1) | MCCC1 | c.1526delG (p.Cys509Serfs*14) |
| Holocarboxylasu synthetasu trot (HLCS) | HLCS | c.1519+5G>A |
| Succinyl-CoA synthethasu trot (Føroyska sjúkan) | SUCLA2 | c.534+1G>A |
| Glycogen storage disorder IIIA (GSD3A) | AGL | c.1222C>T (Arg408Ter) |
| N-acetylglutamate synthasu trot (NAGS) | NAGS | c.971G>A (p.Trp324Ter) |
| Familiær intrahepatisk cholestasa (PFIC) | ATP8B1 | c.1982T>C (p.Ile661Thr) |
| Aicardi-Goutieres syndrom (AGS) | RNASEH2B | c.322-3C>G |
| McArdle Sjúka | PYGM | c.148C>T (p.Arg50Ter) |
| Encefalopati | TBCD | c.3099C>G (p.Asn1033Lys) |
| Bardet-Biedl Syndrom | BBS1 | c.1110+3G>C (p.Val355_Pro370del) |
| Bardet-Biedl Syndrom | BBS1 | c.1169T>G (p.Met390Arg) |
Tað er ómakaleyst at fáa sær kanningina – alt sum skal til er ein spýttroynd
The Genes2Life panel is regularly updated according to the newest recommendations and knowledge obtained in the field of genetic diseases. The Genes2Life panel is based on the recommendations from ACOG (American College of Obstetricians and Gynecologists).
- Carrier probability: 1 in 100 couples at risk
- Characteristics and symptoms related to a known disease
- Have a detrimental effect on the quality of life
- Can damage physical and mental ability
- Require surgical or medical intervention
- Early-onset disease
- Can be diagnosed prenatally
Reference: https://pubmed.ncbi.nlm.nih.gov/28697118/
TYPE OF GENETIC DISEASES INVESTIGATED WITH GENE2LIFE:
Genetic diseases: Spinal muscular atrophy. Statistics: 1 in 6000 -10000 children are born with the disease. In the United Kingdom approx. 2000-2500 children and adults live with SMA. Genetic diseases: Cystic Fibrosis. Statistics: Approx. 1 in 30 people is a healthy carrier of cystic fibrosis without knowing it. In Denmark, 1-2 children are born with cystic fibrosis every month. This represents approx. 150000 people in Denmark. Genetic diseases: Lysosomal diseases such as Tay-Sachs, Sandhoffs, Niemann, Gauchers, Mannosidose, Fukosidose, Sialidose, Hurlers, Hunter, Sanfilippos, Morquios, I-cell, Cystinose, Sallas, Wolmans. Statistics: Approx. 70 different lysosomal diseases. Each of these is very rare, but as a group, they affect about 1 in 5000-8000 newborns. Every year, about 10 children are born with one of these diagnoses in Denmark. Reference: https://www.orpha.net/consor/cgi-bin/index.php?lng=EN
WE RECOMMEND THIS TEST:
- For couples trying to get pregnant.
- Before starting an assisted fertilization treatment.
HOW TO DO IT?
TÁ TÚ BÍLEGGUR KANNINGINA SENDA VIT TÆR EITT HYLKI TIL SPÝTTUPPSAMLING:
1. Um tit eru fleiri, ið hava keypt kanningana, er tað umráðandi at tit seta strikumerkið á samtykkisváttanina og spýtthylkið so spýttroyndin og navn eru rætt tilskila! Allar innsendar royndir verða skrásettar og fáa eitt innanhýsis Amplexa eyðmerkingarnummar.
2. Fyri at vit skulu kunna gera kanningina og skráseta tykkum í okkara kervi, er neyðugt at tit útfylla viðlagda samtykki frymil og senda hann aftur við hylkinum
3. Eru ivamál ella spurningar viðvíkjandi framferðarhátti ella øðrum, set teg í samband við okkum á info@amplexa.com, ring: +45 6611 6628 ella +45 31104700.