Who are these tests for? This testing category is primarily for patients who already show symptoms of a disorder. Patients without symptoms can also be tested but require different analysis and reporting, please see the “Carrier Individual” or “Carrier Couple” links above for more information.
Sample Types: With rare exceptions, in constitutional disorders all cells in the patient's body carry the same disease causing DNA variant(s). This is the reason that these disorders can be diagnosed from different sample types such as blood, saliva, buccal swab, tissue biopsies from any organ or cultured cells. OGM testing requires fresh blood or tissue biopsy.
Why Praxis Genomics? To diagnose the patient's problem, we identify all types of variants over the entire genome of an individual. These include nuclear and mitochondrial single nucleotide polymorphisms and small insertions-deletions, repeat expansions (Fragile X syndrome), contractions (FSHD), and structural variants of all size and type including those that do not result in loss or gain of genetic material such as inversions and translocations.
The Praxis Genomics Technology: We can identify all types of variants because we use Short Read Whole Genome Sequencing (SRG) and Optical Genome Mapping (OGM) together. The complementary strength of the two methodologies, and the fact that the two datasets are analyzed together by the same medical director, results in sensitivity and accuracy that other laboratories cannot match.
The importance of functional testing: Variants identified by SRG and OGM often have not been previously described and it is important to show that they indeed cause the patient's symptoms. Transcriptome (SRT) analysis provides such information based on the quantity and quality of the transcripts made from the affected genes.
Easy to read reports: All this information is filtered and interpreted by a medical doctor. An easy-to-understand, concise report is issued with a clear diagnosis, allowing prognostication and choosing the best possible therapy for the patient.
Financial considerations: Although we recommend that (SRG) and (OGM) tests be performed simultaneously they can also be performed individually or sequentially. We also offer a graded reporting scheme consisting of a Basic Exome, Expanded Exome and Whole Genome analysis from the same genomic dataset at a reduced cost. If the cause of the patient's condition cannot be established based on currently available information, we provide reanalysis of the data one year after the testing was done.