Sanger Sequencing
Using Sanger sequencing, the test includes full sequencing of the exons in the associated gene, +/- 10bp into the flanking intronic regions.
Inquire Online
Using Sanger sequencing, the test includes full sequencing of the exons in the associated gene, +/- 10bp into the flanking intronic regions.
Enquire OnlineThis test is used to look at the entire sequencing of a gene to identify potential disease causing variants. This is a clinical genetic test, and results are analyzed and interpreted by the Gene by Gene medical staff, and the clinical report delivers information on any pathogenic or likely pathogenic variants.
Available Genes
Contact us to discuss your requirements.
Sample Requirements
By default, Gene by Gene will provide buccal (cheek) swab kits with each order. Each test requires two buccal swabs which are included in each kit. This is the preferred sample collection method. Each kit comes with return packaging and pre-paid shipping label.
*Shipping fees may apply to orders outside the United States.
If necessary, Gene by Gene can accept most DNA sample types, including:
- Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples
- Blood: 3-5cc drawn in EDTA (purple-top) tube (additional $50 extraction fee per sample)
- Shipping: For all non-buccal sample types, ship at room temperature in an insulated container. DO NOT HEAT OR FREEZE SAMPLE
Results
Shipping
For all non-buccal sample types, ship at room temperature in an insulated container. DO NOT HEAT OR FREEZE SAMPLE.
Testing Methodology
Genomic DNA is extracted following standard protocols. DNA is amplified to obtain coding exons and their flanking regions (approximately 10 bp on either side). Sequencing is done via Sanger-sequencing method, and all fragments are sequenced by forward and reverse internal primers when possible to determine the noted regions.
When coverage with both forward and reverse primers is not possible, PCR and sequencing are performed in at least two independent reactions in one direction. Mutations are scored relative to the reference sequences deposited in the publicly available database NCBI and following the recommendations of the human genetic variation nomenclature scheme. Accordingly, exon 1 of the tested gene is defined as the exon in which the first ATG appears. Chromosomal positions are indicated according to the hg19 reference assembly.
Turnaround Time
10-15 business days
Price
Inquire for pricing
Product Brochure
Submit the adjacent Test Request Form and our laboratory will be in touch to confirm your inquiry.
