Prader-Willi/Angelman Syndrome with Methylation Analysis NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Prader-Willi Syndrome
Angelman Syndrome

Fulgent's Prader-Willi/Angelman Syndrome with Methylation Analysis Panel uses a combination of targeted Next Generation Sequencing and methylation-sensitive MLPA to provide diagnostic insight for this complex imprinting disorder.
Patients with a known or suspected family history of Prader-Willi or Angelman Syndrome.
Identification of the specific genetic etiology can help confirm a clinical diagnosis and/or determine medical management for a patient. It can also provide information about clinical course of disease and illuminate potential risk for close relatives of the patient.

*The NDN gene is included in this panel for methylayion testing only. Imprinting defects in the 15q11.2 region will be tested by methylation-sensitive multiplex ligand probe amplification (MLPA). As mutations in the NDN gene are not known to be associated with Prader-Willi syndrome, sequence variants in this gene are not analyzed.

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3 - 5 weeks
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NDN, SNRPN, UBE3A ( 3 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in TE buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

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