Rett/AngelmanNext

Rett syndrome and Angelman syndrome are neurodevelopmental disorders that have many overlapping features, including developmental delay, microcephaly, intellectual disability, and epilepsy. Genetic testing can assist with clarifying a diagnosis, and lead to tailored management recommendations and genetic counseling. 

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Test Code: 2026 Test Name: MECP2 seq and del/dup TAT 2-4 weeks Gene: 1
Test Code: 7026 Test Name: Rett/Angelman Panel TAT 3-5 weeks Genes: 22
Test Code: 7029 Test Name: Angelman syndrome TAT 2-4 weeks Genes: 2

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Mutation Detection Rate

Rett/AngelmanNext can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

Rett/AngelmanNext is a panel of 22 genes most commonly associated with Rett syndrome, Angelman syndrome and related disorders: ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A and ZEB2MECP2 gene sequencing and deletion/duplication analysis can be ordered as a single gene test. 

Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS).

Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis for available genes is performed utilizing a targeted chromosomal microarray. Specific Site Analysis for known familial mutations, carrier screening, and prenatal diagnosis is also available.

Methylation analysis to assess the presence or absence of the maternal copy of the 15q11.2-q13 chromosomal region associated with Angelman syndrome can be ordered as a stand-alone test, or with a reflex option to UBE3A gene sequencing and deletion/duplication analysis. Methylation analysis is performed using methylation specific multiplex ligation probe amplification analysis (MS-MLPA, MRC-Holland kit# ME028-B2). This analysis can also detect the absence of the paternal copy of the 15q11.2-q13 chromosomal region, which is associated with Prader-Willi syndrome. 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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