Genetiske analyser ved Hormonlaboratoriet (oversikt)

EDTA-fullblod: 3 ml

Annet materiale: Etter avtale med laboratoriet.

EDTA-rør benyttes. Glasset fylles helt og blandes ved å snu det 8-10 ganger. NB! Prøven må ikke sentrifugeres og kan sendes med vanlig post.

Det kreves klinisk informasjon som symptomer, tegn eller funn forenlig med tilstanden det ønskes genetisk undersøkesle for eller at en slik gentest har behandlingsmessige konsekvenser for pasienten. Familiehistorie er sterkt ønskelig.

Presymptomatisk, prediktiv og bærerundersøkelser forutsetter at genetisk veiledning er gitt på forhånd i følge Lov om medisinsk bruk av bioteknologi (https://lovdata.no/dokument/NL/lov/2003-12-05-100)

A. Arvelig kreft

Carney kompleks

Gen: PRKAR1A (protein kinase A regulatory subunit-1-alpha gene, locus: 17q23-q24 )

Feokromocytom

• Gen: RET (Rearranged during transfection protooncogene, locus: 10q11)
• Gen: VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase, locus: 3p25)

Multippel endokrin neoplasi type 1

• Gen: MEN1 (multiple endocrine neoplasia type I, locus: 11q13)

Multippel endokrin neoplasi type 2A og 2B

Gen: RET (Rearranged during transfection protooncogene, locus: 10q11)

Multippel endokrin neoplasi type 4

• Gen: CDKN1B (multiple endocring neoplasia type 4, locus: 12p13.1)
• von Hippel-Lindau syndrom
• Gen: VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase, locus: 3p25)

B. Gastrointestinale lidelser

Hemokromatose

• Gen: HFE (Hemochromatosis, locus: 6p22)

Laktoseintoleranse

• Gen: LCT (lactase, locus: 2q21)

C. Endokrine tilstander

1-alpha hydroksylasesvikt

• Gen: CYP27B1 (cytochrome P450, family 27, subfamily B, polypeptide 1, locus: 12q14.1)

11-hydroksylasesvikt

• Gen: CYP11B1 (cytochrome P450, family 11, subfamily B, polypeptide 1, locus: 8q21)

17-hydroksylasesvikt

• Gen: CYP17A1 (cytochrome P450, family 17, subfamily A, polypeptide 1, locus: 10q24)

Adrenal hypoplasi, X-bundet

• Gen: NR0B1 (alias DAX1) (nuclear receptor subfamily 0 group B member 1, locus Xp21.2)

Adrenal hypoplasi, congenital, due to 3-beta hydroxysteroid dehydrogenase 2 deficiency

• Gen: HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2, locus 1p12)

Diabetes insipidus, nefrogen, X-bundet

• Gen: AVPR2 (AVP) (arginine vasopressin receptor 2, locus Xq28)

Glukokortikoidresistens

• Gen: NR3C1 (nuclear receptor subfamily 3, group C, member 1, locus: 5q31)

Hypofosfatemisk rakitt

• Gen: PHEX (phosphate regulating endopeptidase homolog, X-linked, locus: Xp22)
• Gen: FGF23 gen (fibroblast growth factor 23, locus: 12p13)
• Gen: DMP1 (dentin matrix acidic phosphoprotein 1, locus 4q22.1)

Lipodystrofi, partiell familiær type 2

• Gen: LMNA (lamin A/C, locus: 1q22)

Lipodystrofi, partiell familiær type 3

• Gen: PPARG (peroxisome proliferator-activated receptor gamma, locus: 3p25)

Pseudohypoparathyreoidisme-GNAS-relaterte tilstander

• Gen: GNAS1 (Guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1, locus: 20q13)

Familiær hypokalsiurisk hyperkalsemi

• Gen: CASR (Calcium-sensing receptor, locus: 3q21)
• Gen: AP2S1 (Adaptor related protein complex 2 sigma 1 subunit, locus 19q13.32)

Hyperparathyreoidisme og kjevetumor

• Gen: CDC 73 (HRPT2) (hyperparathyroidism 2, locus: 1q31.2)

Hyperthyreose

• Gen: TSHR (thyroid stimulating hormone receptor, locus: 14q31)

Hypothyreoidisme, kongenital

• Gen: TSHB (thyroid stimulating hormone beta, locus 1p13.2)

Thyreoideahormonresistens

• Gen: THRB (Thyroid hormone receptor beta, locus: 3p24)
• Gen: THRA (Thyroid hormone receptor alpha, locus: 17q21.1)
• Gen: SLC16A2 (alias MCT8) (solute carrier family 16 member 2, locus: Xq13.2)

Hyperthyroxinemi

• Gen: ALB (Albumin, locus: 4q11-q13)

Hyperparathyreoidisme

• Gen: MEN1 (Multiple endocrine neoplasia I, locus: 11q13)

• Gen: GCM2 (Glial cells missing transcription factor 2, locus: 6p24.2)

Pseudohypoaldosteronisme, PHA1A

• Gen: NR3C2 (nuclear receptor family 3 member 2, locus: 4q31.23)

Pseudohypoaldosteronisme, PHA1B

• Gen: SCNN1A (Sodium channel, non-voltage-gated 1 alpha subunit, locus: 12p13)
• Gen: WNK4 (WNK lysine deficient protein kinase, locus: 17q21.2)