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Test ID HTT Serotonin Transporter Genotype, Blood

Useful For

Evaluating patients who have failed therapy with selective serotonin reuptake inhibitors (SSRIs)

 

Evaluating patients with treatment-resistant depression

 

Predicting response time to improvement with SSRIs

 

Identifying patients who might respond favorably to a class of antidepressants other than SSRI.

 

Identifying patients who have diminished amounts of the serotonin transporter and, hence, an altered response to SSRI therapeutics

Method Name

Polymerase Chain Reaction (PCR) Followed by Sizing Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

Serotonin Transporter Genotype

Specimen Type

Whole Blood EDTA

Multiple whole blood EDTA genotype tests can be performed on a single specimen after a single extraction. See Multiple Whole Blood EDTA Genotype Tests in Special Instructions for a list of tests that can be ordered together.

 

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL 

Forms: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

Specimen Minimum Volume

0.3 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)
  Refrigerated 

Clinical Information

Serotonin (5-hydroxytryptamine; 5-HT) is a neurotransmitter. The serotonin transporter (5-HTT) modulates neurotransmission by facilitating removal of serotonin from the synapse of serotonergic neurons, resulting in serotonin reuptake into the presynaptic terminus. Other designations for 5-HTT are SLC6A4 (solute carrier family 6 [neurotransmitter transporter, serotonin], member 4), hSERT, OCD1, SERT, sodium-dependent serotonin transporter, and 5-HT transporter.

 

Selective serotonin reuptake inhibitors (SSRIs) block the action of the serotonin transporter and are used to treat depression and other neuropsychiatric disorders. Examples of SSRIs are fluoxetine (Prozac), fluvoxamine (Luvox), escitalopram oxalate (Lexapro), sertraline (Zoloft), citalopram (Celexa), and paroxetine (Paxil, Paxil CR).

 

The 5-HTT gene is located at 17q11.1-q12 and is composed of 14 exons spanning 31 kb. A 44-base pair promoter insertion/deletion polymorphism called LPR, or linked polymorphic region, produces alleles described as long or short. The short allele is dominant and results in decreased concentration of the transporter protein and a poorer response to stressful events. While individuals homozygous for the long allele (l/l) may demonstrate response to SSRI therapy in 3 to 4 weeks, individuals with the short allele (l/s or s/s) may respond to SSRI therapy more slowly, taking up to 12 weeks.

Reference Values

An interpretive report will be provided.

Cautions

Patients who have received a heterologous blood transfusion within the preceding 6 weeks, or who have received an allogeneic blood or marrow transplant, can have inaccurate genetic test results due to presence of donor DNA.

 

The test measures only the 5-HTT (LPR) polymorphism and will not indicate the presence of any other polymorphism. A mutation occurring at the site of PCR primer annealing could lead to a heterozygote being incorrectly labeled as a homozygote.

Day(s) Performed

Monday, Thursday; 8 a.m.

Report Available

1 day

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479 -Unlisted molecular pathology procedure

NY State Approved

Conditional