Klinische FragestellungSchilddrüsenüberfunktion / Hyperthyreoidismus; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Schilddrüsenüberfunktion / Hyperthyreoidismus mit 7 kuratierten Genen gemäß klinischer Verdachtsdiagnose

SP3377

Anzahl Loci

Loci-Typ	Anzahl
Gen	7

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

11,4 kb (Core-/Core-canditate-Gene)
- (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
ALB	1830	103600	NM_000477.7	AD
SECISBP2	2565	607693	NM_024077.5	AR
SLC16A2	1620	300095	NM_006517.5	XLR
THRA	1233	190120	NM_199334.5	AD
THRB	1386	190160	NM_000461.5	AD, AR
TSHR	2295	603372	NM_000369.5	AD
TTR	444	176300	NM_000371.4

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_SP3377

Synonyme

Alias: Abnormal thyroid hormone metabolism (SECISBP)
Alias: Congenital, nonautoimmune hyperthyroidism (TSHR)
Alias: Hyperthyroidism [familial] (TRHB)
Alias: Hyperthyroxinaemia
Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
Allelic: Analbuminemia (ALB)
Allelic: Carpal tunnel syndrome, familial (TTR)
Allelic: Hypothyroidism, congenital, nongoitrous, 1 (TSHR)
Allelic: Hypothyroidism, congenital, nongoitrous, 6 (THRA)
Allelic: Thyroid hormone resistance (THRB)
Allelic: Thyroid hormone resistance, AR (THRB)
Allelic: Thyroid hormone resistance, selective pituitary (THRB)
Allan-Herndon-Dudley syndrome (SLC16A2)
Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
Allelic: Diabetes, type 1, susceptibility to (PTPN22)
Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
Allelic: Systemic lupus erythematosus susceptibility to (PTPN22)
Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
Dysalbuminemic hyperthyroxinemia (ALB)
Dystransthyretinemic hyperthyroxinemia (TTR)
Hashimoto thyroiditis (CTLA4)
Hyperthyroidism, familial gestational (TSHR)
Hyperthyroidism, nonautoimmune (TSHR)
Hyperthyroidism, transitional (THRA, THRB)
Immune dysregulation with autoimmunity, immunodeficiency, lymphoproliferation (CTLA4)
Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
Thyroid adenoma, hyperfunctioning, somatic (TSHR)
Thyroid carcinoma with thyrotoxicosis (TSHR)
Thyroid hormone metabolism, abnormal (SECISBP2)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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