Milford Molecular Diagnostics

2044 Bridgeport Ave, Milford, CT 06460

 

Milford Molecular Diagnostics


"DNA sequencing-based diagnostics are our specialty and routine diagnostic DNA sequencing is the gateway to practicing personalized molecular medicine."


- Sin Hang Lee, MD, F.R.C.P.(C), FCAP
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At the Milford Molecular Diagnostics Laboratory, we specialize in routine Sanger sequencing-based DNA tests for the following:

  • Lyme disease 1-5
  • Chlamydia trachomatis 6,7
  • Neisseria gonorrhoeae 6,7
  • Human papillomavirus (HPV) detection and genotyping 8-13
  • BRCA1 and BRCA2 Ashkenazi Jewish founder mutations screen 14

 

Accurate results of these five tests are crucial in assisting physicians to provide better care for their patients.

 

The Lyme disease test is performed on an EDTA whole blood sample. The women’s health care sequencing tests, can be performed on 10% of a ThinPrep or SurePath Pap cervical cytology collection.

 

The American College of Obstetricians and Gynecologists (ACOG) has recommended that screening for hereditary breast and ovarian cancer be part of the routine services provided by women’s health care physicians. Please read: ACOG recommendation  and ACOG FAQ

 

Our CLIA-approved tests are unique in that all positive or genotyping reports contain a diagnostic Sanger sequencing electropherogram as objective physical evidence for molecular validation, like the EKG in a cardiologist’s consultation report. Sanger sequencing is the gold standard for all nucleic acid tests. For example, the FDA advises the medical device manufacturers of human papillomavirus test kits as follows:

 

One way to do this is to perform an FDA-approved HPV test that detects the same genotypes as your test, or you may perform PCR followed by sequencing of the amplicon (PCR/Sequencing) on your clinical specimens and compare these results to the results of your device.”  15

 

There are at least 40 HPV genotypes prevalent in the cervical cell samples from women living in Connecticut.

 

In addition to achieving high specificity, we use nested PCR to increase the detection sensitivity, which is also crucial because the copies of HPV DNA may drop from thousands down to <10 per cell during the course of cancer development. The density of spirochetes is usually below 100 per 1 mL of venous blood in Lyme disease patients.  

 

According to one analysis by the New York State HPV Proficiency Test program, the accuracy of 40% of the results generated by commercial test kits was questionable.13 Using the results of these commercial HPV test kits for triage, more than 95% of the patients referred to colposcopic biopsies for diagnostic workup have been found to be unnecessary and potentially excessive.16   If HPV assays are used as a primary tool for cervical screen for cervical cancer prevention, triage to colposcopic biopsy should be based on at least two positive samples taken more than 6 months apart showing the same HPV genotype by DNA sequencing in both samples with companion abnormal Pap cytology in order to reduce the unnecessary harmful colposcopic biopsies.13,17

 

Milford Molecular Diagnostics is the only laboratory that can diagnose low-density bacteremia in Lyme disease patients.4



For more information regarding the cited research, please visit our REFERENCES page to find details behind the footnote references.