XLMR Next-Gen SuperPanel
Next-Gen Sequencing utilizes a massive parallel sequencing technology that provides high throughput and analytical sensitivity. The Ambry XLMR Next-Gen SuperPanel™ will detect point mutations, small insertions and deletions in 81 genes implicated in XLMR. Approximately 42% of patients with a family history of XLMR are anticipated to have mutations in one of 81+ known genes implicated in XLMR.
PrintNext-Gen Sequencing utilizes a massive parallel sequencing technology that provides high throughput and analytical sensitivity. The Ambry XLMR Next-Gen SuperPanel™ will detect point mutations, small insertions and deletions in 81 genes implicated in XLMR. Approximately 42% of patients with a family history of XLMR are anticipated to have mutations in one of 81+ known genes implicated in XLMR.
Mental retardation (MR) involves a complex collection of clinically and genetically diverse disorders. 1 Diagnosis of MR is typically based on three main criteria: onset of symptoms before the age of 18, intellectual abilities significantly lower than average, and reduced adaptive skills. Individuals with MR tend to struggle in areas including communication, health, interpersonal/social skills, leisure, safety, self-guidance and care, school performance, and work.
X-linked mental retardation (XLMR) is associated with more than 200 conditions linked to >90 genes on the X chromosome. XLMR affects approximately 1/600-1/1000 males as well as a significant number of females. Mutations in these genes have been shown to be an underlying cause of mental retardation which may or may not be associated with other congenital anomalies, developmental delay, autism, dysmorphism, and numerous genetic syndromes.
Next-Gen Sequencing utilizes a massive parallel sequencing technology that provides high throughput and analytical sensitivity. The Ambry XLMR Next-Gen SuperPanel™ will detect point mutations, small insertions, small deletions in 81 known genes implicated in XLMR. Approximately 42% of patients with a family history of XLMR are anticipated to have mutations in one of the 81+ known genes implicated in XLMR4.
Mental retardation (MR) involves a complex collection of clinically and genetically diverse disorders. Diagnosis of MR is typically based on three main criteria: onset of symptoms before the age of 18, intellectual abilities significantly lower than average, and reduced adaptive skills. Individuals with MR tend to struggle in areas including communication, health, interpersonal/social skills, leisure, safety, self-guidance and care, school performance, and work.
X-linked mental retardation (XLMR) is associated with more than 200 conditions linked to >90 genes on the X chromosome. XLMR affects approximately 1/600-1/1000 males as well as a significant number of females. Mutations in these genes have been shown to be an underlying cause of mental retardation which may or may not be associated with other congenital anomalies, developmental delay, autism, dysmorphism, and numerous genetic syndromes.
The XLMR Next-Gen SuperPanel may be considered for any individual with idiopathic syndromic or non-syndromic mental retardation, developmental delay, and learning disabilities with or without congenital abnormalities.
Prenatal testing is available for families in which a specific mutation in one of the 81 genes has been identified.
The Ambry XLMR Next-Gen SuperPanel is a comprehensive gene sequencing screen for 81 genes associated with X-linked mental retardation (nonsyndromic and syndromic). Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified by agarose gel electrophoresis. Sequence enrichment is carried out by incorporating the gDNA into microdroplets along with primer pairs designed to the target XLMR gene coding exons followed by polymerase chain reaction (PCR) and Next-Gen Sequencing. Additional Sanger sequencing is performed for any regions missing coverage, and for any regions with sequence similarity elsewhere in the genome (including exons of genes as noted in individual gene test entries). Suspect variant calls other than polymorphisms are verified by Sanger sequencing in sense and antisense directions.
The Ambry XLMR Next-Gen SuperPanel™ targets detection of mutations in 81 genes by either Next-Generation or Sanger sequencing of all coding domains plus at least 20 bases into the 5’ and 3’ ends of all the introns. The following sites are used to search for previously described XLMR mutations and polymorphisms: Human Gene Mutation Database (HGMD) and online search engines (e.g., OMIM, PubMed).
Clinical sensitivity: Approximately 42% of patients with a family history of XLMR are anticipated to have mutations in one of the 81+ known genes implicated in XLMR4.
Analytic sensitivity: The Ambry XLMR Next-Gen SuperPanel™ is designed and validated to be capable of detecting 83% of described mutations in the 81 genes represented on the panel (considering less than 17% to be the other types of mutations).
Blood: 5-10 cc blood in purple top EDTA tube (preferred) or yellow top citric acetate tube.
For XLMR Array Plus™, add 5 cc in green-top sodium heparin tube. Maximum of 15 cc for all tests.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.
DNA: 25μg of of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); Minimum concentration 50 ng/μl.
Storage: -20°C.
Shipment: Shipment frozen on dry ice is preferred, or ship on ice.
| Test Code | Technique | CPT Codes |
|---|---|---|
| 8626 | XLMR Next-Gen SuperPanel | 83891x1, 83892x5, 83894x22, 83898x10, 83904x80, 83900x1, 83901x80, 83909x20, 83912x1 |
| Technique | Days |
|---|---|
| XLMR Next-Gen SuperPanel | 84-112 |
1 Gecz J et al. Trends in Genetics 2009;25(7):308-316
2 Lisik M, Sieron A. Med Sci Monit. 2008;14(11):RA221-229
3 Chiurazzi R et al. E J Hum Genet. 2008;16:422-434
4 de Brouwer et al. Hum Mutation 2007:28(2):207-8