Genetics - Clinical and Metabolic
Referrals to Our Practice
Referrals can be made by your PCP or medical specialist; however, some of this is subject to your insurance benefits. Some plans do not allow a specialist to specialist referral. We require ALL documentation (patient medical records, lab tests, genetic testing results, growth charts, etc.) and insurance authorization(s) is in place BEFORE an appointment is made. All requested documentation can be faxed to our office at 512-628-1841. Your providers can help you by sending these records on your behalf upon your request.
If you are calling to make an appointment please call (512) 628-1840, Option 1 to speak to the Scheduler. We must receive all documents BEFORE an appointment can be made. Please make certain all required patient medical records, genetics history forms (they are also located to the right, click on “forms” hyperlink), and insurance authorization forms are received prior to the patient’s scheduled appointment.
Please bring the following to your Genetics appointment:
- Valid insurance card and driver’s license
- Referral/Authorization – provided by your healthcare provider
- Genetics history forms – Please complete these before your appointment
Telephone Calls, Lab Results and Prescription Refills
- Please note that scheduling appointments and medication refills are to be done during business hours only.
- Due to changes in genetic testing and insurance coverage, please be aware of your insurance coverage benefits. There are insurance plans that do NOT cover genetic testing. Some insurance plans will only cover genetic testing after prior authorization or predetermination. Please be aware that genetic labs may not be ordered and drawn the same day as your Genetics appointment due to these limitations. If genetic labs are approved by your insurance, you will have to return for a separate lab visit at a later date to our building’s draw station. Genetic lab orders generally cannot be sent to outside lab draw stations (such as Quest, LabCorp, CPL) because of difficulties with specimen collection and specimens not being sent to the proper lab facilities. Genetic testing results have varying turnaround time—weeks to months. At times result may be delayed by the outside lab, this is not in our control.
- Please call your pharmacy first for all medication refills. A laboratory evaluation or a clinic visit may be required prior to authorizing a prescription refill. Please note refill authorizations may take up to 2 business days to process. Medication refills will not be called in evenings or weekends. There may be additional forms, sent by the pharmacy, that need to be completed by this office for insurance purposes after a prescription refill has been sent, and before the pharmacy will dispense the prescribed medication.
Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS)
- It is our Division’s policy that WES or WGS ordered by non-SFC Genetics providers will not be reviewed or interpreted by our SFC Genetics providers. The health care provider who ordered this testing, counseled, and consented you for these tests are responsible for interpreting them for you.
Direct-to-Consumer (DTC) companies offering genome-wide assays and interpretation
- It is our Division’s policy that DTC genetic testing results will not be reviewed or interpreted by our SFC Genetics providers.
MTHFR polymorphism testing
- Please see the ACMGG’s Practice Guidelines. (attachment to the PDF, I have it on my desktop)
- GCs—could you help w/ this verbage?
- MTHFR polymorphism testing will not be ordered by our SFC Genetics providers.
- Methylene tetrahydrofolate reductase (MTHFR) is an enzyme in the metabolism of folates within cells of the body.
- There are two commonly recognized polymorphic variants in the gene encoding for this enzyme: the “thermolabile” variant c.665C→T (p.Ala222Val), historically more commonly referred to as C677T, and the c.1286A→C (p.Glu429Ala) variant. Both are missense changes that are known to decrease enzyme activity. It is estimated that >25% of Hispanics and between 10 and 15% of North American Caucasians are homozygous for the “thermolabile” variant.
- MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. Meta-analyses have disproven an association between MTHFR polymorphism status and risk for venous thromboembolism. There is growing evidence that MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia.
- MTHFR polymorphisms and association with autism spectrum disorders:
- A 2013 meta-analysis showed the following—“The results showed that the C677T polymorphism was associated with significantly increased autism spectrum disorder risk. Tthe C677T polymorphism was found to be associated with autism spectrum disorder only in children from countries without food fortification” of folic acid. The A1298C polymorphism was found to be significantly associated with reduced autism spectrum disorder but only in a recessive model…
- A 2012 meta-analysis showed the following—“…blood levels of vitamins suggest a lack of association (folic acid and vitamin B12) or rare association (vitamins A, B6, C, D, E) (with autism). Sparse results were available for other biomarkers…and for polymorphisms in other genes. Existing evidence is heterogeneous and many studies are limited by small sample size and effects.”
- It is our Division’s policy that pharmacogenetics testing results will not be reviewed or interpreted by our SFC Genetics providers. The health care provider who ordered this testing, counseled, and obtained your consent for these tests are responsible for interpreting them for you.
- Pharmacogenetics testing tests will not be ordered by our SFC Genetics providers as separate laboratory studies.
Request to change Genetics Provider within our Division
- Please call our office for details, this is on a case by case basis and requires approval by both SFC Genetics physicians