| Test Code | 5724 |
| Turnaround Time (TAT) | 14-21 days |
| Number of Genes | 1 |
We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.
Order NowThis test can detect >99.9% of described mutations in SPRED1, when present (analytic sensitivity).
Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified by agarose gel electrophoresis. Polymerase chain reaction (PCR) is used to selectively amplify regions of gDNA corresponding to SPRED1 followed by double stranded sequencing in sense and antisense directions to detect sequence variations. Gross deletion/duplication analysis is performed using the multiplex ligation-dependent probe amplification (MLPA) kit.
SPRED1 exons 1-7 plus at least 20 bases into the 5’ and 3’ ends of all the introns are analyzed Human Gene Mutation Database (HGMD). Online search engines (e.g. PubMed) and the SPRED1 (ARUP) database are used to search for previously described SPRED1 mutations and polymorphisms. Sequence analysis is based on the following NCBI reference sequence: SPRED1 - NM_152594.2.