IllnessRett syndrome

Request form illness

Summary

Short information

Guideline-curated single gene sequence analysis according to the clinical suspicion Rett syndrome

RS5080

Number of genes

1 Accredited laboratory test

Examined sequence length

1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Sanger

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
MECP2	1461	300005	NM_004992.4	XL

Informations about the disease

Clinical Comment

Neurological disorder almost exclusively affecting girls with rapid developmental regression in infancy, loss of purposeful hand movements + speech, gait abnormalities, repetitive stereotypic hand movements; severe intellectual disability, microcephaly, seizures, breathing abnormalities, disturbed sleeping patterns, scoliosis, impaired social interactions or social withdrawal etc.; progresses in stages, with late motor deterioration eventually leading to decreased mobility, muscle weakness, rigidity, spasticity, dystonia

Synonyms

Allelic: Autism susceptibility, XL 3 (MECP2)
Allelic: Encephalopathy, neonatal severe (MECP2)
Allelic: Mental retardation, XL syndromic, Lubs type (MECP2)
Allelic: Mental retardation, XL, syndromic 13 (MECP2)
Rett syndrome (MECP2)
Rett syndrome, atypical (MECP2)
Rett syndrome, preserved speech variant (MECP2)

Heredity, heredity patterns etc.

OMIM-Ps

300005

ICD10 Code

Bioinformatics and clinical interpretation

No text defined