Automated DNA sequencing may be used to screen known and unknown mutations. The genomic DNA is extracted according to DNA extraction protocols and used as primary starting material. At FirmaLab, analysis is performed by bi-directional sanger sequencing of the coding region of the gene.

FirmaLab offers DNA sequencing of almost any gene. Contact the laboratory for any inquiries.

Normal Sample Report

Abnormal Sample Report

FirmaLab can tailor to your sequencing needs. We are capable of sequencing almost every gene. Contact us for a consultation.

Sequencing: Sequence of entire coding region of a gene.

Genotype: Sequence of specific segments to check for known mutations. This is recommended for family members that would like to confirm if they are carriers or not of a hereditary disease.

Requisition form.

Specimen and Volume: Buccal epithelial cells collected on standard cotton tip swabs. Alternative acceptable specimens include 10-20 cc of blood in EDTA or ACD BD Vacutainer tubes guide. Other types of tissue may be accepted (please call 818-789-1033 to verify before sending). Contact us and FirmaLab will gladly provide buccal swab kits for you.

Contact your doctor's office or FirmaLab for buccal swab kits. Buccal Swab Kit Instructions

Temperature: Specimen can be at room temperature and needs to be at the laboratory no more than 72hrs afer collection. Do not freeze whole blood .

Turn around time: 10-21 days

Policy: General rejection criteria for specimens received at the laboratory may be developed. Additionally, each test may have specific requirements and shall have specific rejection criteria under the Specimen Requirements of the NCCLS formatted description of the test.

Procedure: Below are general rejection criteria. If the specimen must be rejected based on the following criteria, or specific criteria for the requested test:

1. The test requisition form has missing information. Requisition must contain the required information including:
   • Requesting party and referring authority, usually a healthcare professional.
   • Patient identifying information - Name or alias if anonymous;
   • Test requested, Clinical indication for testing;
   • Date and time of specimen collection;
   • Type of sample (e.g. whole blood or epithelial cells obtained by buccal swab);
   • All other identifying information (e.g. social security number, telephone number, hospital ID, sex … etc.) is optional, but useful for accurate differentiating between patients with similar names.
2. Label is unclear;
3. Blood specimen is from a recipient of bone marrow transplant;
4. Specimen is inappropriate for test requested;
5. Blood sample is clotted or hemolyzed;
6. Incorrect container or Vacutainer used;