Johns Hopkins DNA Diagnostic Laboratory

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Progesterone-Deficient Infertility

Gene:    SCARB1 (SR-B1 protein)
Test:   Genotyping for rs4238001 (c.4G>A; p.Gly2Ser); Direct mutation analysis by DNA sequencing of SCARB1 exon 1
CPT Codes:
  83891 x 1; 83898 x 1; 83904 x 2; 83909 x 2; 83912 x 1

2013 CPT Code:  81479

Sensitivity:   Carriers of the rs4238001 variant have been shown to have 29% lower follicular progesterone levels compared to non-carriers (although this comparison reached statistical significance only in the Caucasian population  [Yates et al. Human Reproduction, in press]).  Though the frequency of the minor allele varies by ethnicity, approximately 13% of the population are carriers
Cost:   $302 per individual blood sample
Turn Around Time:    Approximately 2 weeks
Special Considerations / Clinical Utility:    SR-B1 is the predominant receptor for HDL cholesterol.  It plays an important role in reverse cholesterol transport (removal from cells with eventual disposal via the liver) and is highly expressed in the liver and steroidogenic tissues such as the ovary.  SR-B1 is thought to be critical in maintaining cholesterol stores for steroid production. 

 rs4238001 is considered a risk or susceptibility allele for infertility/reduced fetal viability, as demonstrated in a small group of patients undergoing in vitro fertilization.  These poor reproductive outcomes were observed despite routine progesterone supplementation. 

 There is no treatment at present; however, there is hope that specific cholesterol medications may increase fertility and/or fetal viability in these patients.  Until treatment is available, knowledge of SR-B1 status may be helpful for infertile couples in considering reproductive options. 

Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on Pfeiffer Syndrome.

Link to Patient and Family Page for general resources on genetic testing.