Invitae Trichorhinophalangeal Syndrome Panel
Use
The Invitae Trichorhinophalangeal Syndrome Panel analyzes two genes that are associated with trichorhinophalangeal syndrome (TRPS), which is characterized by short stature, cone-shaped epiphyses, brachydactyly, sparse hair and a bulbous nasal tip, and variable exostoses and intellectual deficit. Contiguous deletions of the TRPS1 and EXT1 genes cause TRPS type 2, also known as Langer-Giedion syndrome, characterized by multiple osteochondromas and distinctive facial and skeletal features. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
This report reflects the analysis of an extracted genomic DNA sample. In very rare cases such as circulating hematolymphoid neoplasm, bone marrow transplant, or recent blood transfusion, the analyzed DNA may not represent the patient's constitutional genome.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. It also detects insertions and deletions larger than 15bp but smaller than a full exon. In rare situations, single-exon copy number events may not be analyzed due to sequence properties or data quality. Certain types of variants, like structural rearrangements or variants in complex sequences, may not be detected. It's not always possible to resolve details about variants such as mosaicism or phasing, and promoter sequence changes are not usually covered unless explicitly stated.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)