IllnessSqualen synthase deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Squalen synthase deficiency containing 2 core candidate genes and altogether 5 curated genes according to the clinical signs

SP5556

Number of genes

5 Accredited laboratory test

Examined sequence length

3,6 kb (Core-/Core-canditate-Genes)
7,5 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	Referenz-Seq.	Heredity
FDFT1	1254	184420	NM_004462.5	AR
LSS	2303	600909	NM_001001438.3	AR
DHCR24	1551	606418	NM_014762.4	AR
DHCR7	1428	602858	NM_001360.3	AR
SC5D	900	602286	NM_001024956.3	AR

Informations about the disease

Synonyms

Alias: Neurodevelopmental disorder with low cholesterol+abnormal urine organic acids
Alopecia-mental retardation syndrome 4 (LSS)
Cataract 44 (LSS)
Desmosterolosis (DHCR24)
Hypotrichosis 14 (LSS)
Lathosterolosis (SC5D)
Smith-Lemli-Opitz syndrome (DHCR7)
Squalene synthase deficiency (FDFT1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined