©istock.com/Andrea Obzerova

Interdisciplinary CompetenceMolecular Diagnostics

Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPrimrose syndrome, differential diagnosis

Request form illness

Summary

Short information

Comprehensive differential diagnostic panel for Primrose syndrome comprising 7 curated genes according to the clinical signs

ID

PP3332

Number of genes

7 Accredited laboratory test

Examined sequence length

2,3 kb (Core-/Core-canditate-Genes)
22,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
ZBTB20	2226	606025	AD
FMR1	1899	309550	XL
GPC3	1743	300037	XLR
GPC4	1671	300168	XLR
NSD1	8091	606681	AD
PTEN	1212	601728	AD
SHANK3	5386	606230	AD

Informations about the disease

Synonyms

Alias: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
Allelic: Glioma susceptibility 2 (PTEN)
Allelic: Meningioma (PTEN)
Allelic: Premature ovarian failure 1 (FMR1_CCG)
Allelic: Prostate cancer, somatic (PTEN)
Allelic: Schizophrenia 15 (SHANK3)
Allelic: Wilms tumor, somatic (GPC3)
Cowden syndrome 1 (PTEN)
Fragile X syndrome (FMR1_CCG)
Keipert syndrome (GPC4)
Lhermitte-Duclos syndrome (PTEN)
Macrocephaly/autism syndrome (PTEN)
Phelan-McDermid syndrome (SHANK3)
Primrose syndrome (ZBTB20)
Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
Sotos syndrome 1 (NSD1)

Heredity, heredity patterns etc.

AD
XL
XLR

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q87.-

Bioinformatics and clinical interpretation

No text defined