IllnessNaevus, epidermal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Naevus, epidermal, comprising 1 guideline-curated gene and altogether 8 curated genes according to the clinical signs

NP5554

Number of genes

7 Accredited laboratory test

Examined sequence length

7,9 kb (Core-/Core-canditate-Genes)
10,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)
Gewebeprobe

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FGFR1	2469	136350	NM_023110.3	AD
FGFR3	2421	134934	NM_000142.5	AD
HRAS	570	190020	NM_005343.4	AD
KRAS	567	190070	NM_004985.5	AD, AR
NRAS	570	164790	NM_002524.5	AD, Sus
PTEN	1212	601728	NM_000314.8	AD
NEK9	2998	609798	NM_033116.6	n.k.

Informations about the disease

Clinical Comment

Most often postzygotic (somatic) mutations

Synonyms

Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
Allelic: Apert syndrome (FGFR2)
Allelic: Arthrogryposis, Perthes disease + upward gaze palsy (NEK9)
Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
Allelic: Bent bone dysplasia syndrome (FGFR2)
Allelic: Craniosynostosis, nonspecific (FGFR2)
Allelic: Crouzon syndrome (FGFR2)
Allelic: Jackson-Weiss syndrome (FGFR2)
Allelic: LADD syndrome (FGFR2)
Allelic: Lethal congenital contracture syndrome 10 (NEK9)
Allelic: Pfeiffer syndrome (FGFR2)
Allelic: Saethre-Chotzen syndrome (FGFR2)
Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
Allelic: Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
Epidermal naevus [syndrome] (HRAS, KRAS, NRAS)
Giant congenital pigmented naevus (HRAS, NRAS)
Giant pigmented hairy naevus (HRAS, NRAS)
Melanocytic naevus syndrome, congenital, somatic (HRAS, NRAS)
Naevus sebaceous or woolly hair naevus
Naevus, keratinocytic, nonepidermolytic (HRAS, KRAS, NRAS, PIK3CA)
Nevus comedonicus, somatic (NEK9)
Schimmelpenning-Feuerstein-Mims syndrome (HRAS, KRAS, NRAS)
Spitz naevus or naevus spilus, somatic (HRAS)
Woolly hair naevus (HRAS)

Heredity, heredity patterns etc.

AD
AR
Sus
n.k.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined