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
References, Guidelines, and Recommended Practices


Throughout this website, we have provided footnotes to many scientific references and industry authorities, so that you may research and explore related topics if you wish.  These are complex medical issues and we believe it is important for everyone to take control of guiding their own healthcare for the best results and the longest, healthiest lives.


Below is a compiled list for your convenience. 



  1. Lee SH, Vigliotti VS, Vigliotti JS, Jones W, Pappu S. Increased sensitivity and specificity of Borrelia burgdorferi 16S ribosomal DNA detection. Am J Clin Pathol. 2010 ;133:569-76.
  2. Lee SH, Vigliotti VS, Vigliotti JS, Jones W, Williams J, Walshon J. Early Lyme disease with spirochetemia - diagnosed by DNA sequencing. BMC Res Notes. 2010;3:273.
  3. Lee SH, Vigliotti JS, Vigliotti VS, Jones W, Shearer DM. Detection of borreliae in archived sera from patients with clinically suspect Lyme disease. Int J Mol Sci. 2014;15:4284-98.
  4. Lee SH, Vigliotti JS, Vigliotti VS, Jones W, Moorcroft TA, Lantsman K. DNA sequencing diagnosis of off-season spirochetemia with low bacterial density in Borrelia burgdorferi and Borrelia miyamotoi infections. Int J Mol Sci. 2014;15:11364-86.
  5. Lee SH. Lyme disease caused by Borrelia burgdorferi with two homeologous 16S rRNA genes: a case report. Int Med Case Rep J. 2016;9:101-6.
  6. Lee SH, Vigliotti VS, Pappu S. DNA sequencing validation of Chlamydia trachomatis and Neisseria gonorrhoeae nucleic acid tests. Am J Clin Pathol. 2008;129:852-9.
  7. Lee SH, Vigliotti VS, Pappu S. Molecular tests for human papillomavirus (HPV), Chlamydia trachomatis and Neisseria gonorrhoeae in liquid-based cytology specimen. BMC Womens Health. 2009;9:8.
  8. Lee SH, Vigliotti VS, Vigliotti JS, Pappu S. Routine human papillomavirus genotyping by DNA sequencing in community hospital laboratories. Infect Agent Cancer. 2007;2:11.
  9. Lee SH, Vigliotti VS, Pappu S. HPV infection among women in a representative rural and suburban population of the USA. Int J Gynaecol Obstet. 2009;105:210-4.
  10. Lee SH, Vigliotti VS, Vigliotti JS, Pappu S. Validation of human papillomavirus genotyping by signature DNA sequence analysis. BMC Clin Pathol. 2009;9:3.
  11. Lee SH, Vigliotti VS, Pappu S. Signature sequence validation of human papillomavirus type 16 (HPV-16) in clinical specimens. J Clin Pathol. 2010;63:235-9.
  12. Lee SH. Guidelines for the use of molecular tests for the detection and genotyping of human papilloma virus from clinical specimens. Methods Mol Biol. 2012;903:65-101.
  13. Lee SH, Vigliotti JS, Vigliotti VS, Jones W. From Human Papillomavirus (HPV) Detection to Cervical Cancer Prevention in Clinical Practice. Cancers (Basel). 2014;6:2072-99.
  14. Lee SH, Zhou S, Zhou T, Hong G. Sanger Sequencing for BRCA1 c.68_69del, BRCA1 c.5266dup and BRCA2 c.5946del Mutation Screen on Pap Smear Cytology Samples. International Journal of Molecular Sciences. 2016; 17:229.
  1. Guidance for Industry and Food and Drug Administration Staff - Establishing the Performance Characteristics of In Vitro Diagnostic Devices for the Detection or Detection and Differentiation of Human Papillomaviruses.
  2. Stout NK, Goldhaber-Fiebert JD, Ortendahl JD, Goldie SJ. Trade-offs in cervical cancer prevention: balancing benefits and risks. Arch Intern Med. 2008;168:1881-9.
  3. Wallin KL, Wiklund F, Angstrom T, Bergman F, Stendahl U, Wadell G, Hallmans G, Dillner J: Type-specific persistence of human papillomavirus DNA before the development of invasive cervical cancer. N Engl J Med. 1999;341:1633-8.
  4. Hong G, Lee SH, Ge S, Zhou S. A Novel Low Temperature PCR Assured High-Fidelity DNA Amplification. International Journal of Molecular Sciences. 2013; 14(6):12853-12862.
  5. Lee SH, Pappu S. Signature sequence validation of human papillomavirus type 16 (HPV-16) in clinical specimens. J Clin Path. 2010;63:235-23
  6. Schwarz E, Freese UK, Gissmann L, Mayer W, Roggenbuck B, Stremlau A, zur Hausen H. (1985). Structure and transcription of human papillomavirus sequences in cervical carcinoma cells. Nature 314: 111–114.
  7. Lee SH. Detection of human papillomavirus (HPV) L1 gene DNA possibly bound to particulate aluminum adjuvant in the HPV vaccine Gardasil. J Inorg Biochem. 2012;117:85-92.
  8. FDA Information on Gardasil – Presence of DNA Fragments Expected, No Safety Risk.
  9. Department of Public Health, State of Connecticut.  Breast Cancer: Genetic Testing for Hereditary Breast & Ovarian Cancer: What You Should Know.
  10. Finkelman BS, Rubinstein WS, Friedman S, et al. Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol 2012;30:1321–8.
  11. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185–7.
  12. Phelan CM, Kwan E, Jack E, et al. A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families. Hum Mutat 2002;20:352–7.
  13. Tafe, L.J.; Datto, M.B.; Palomaki, G.E.; Lacbawan, F.L.; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: A report on the College of American Pathologists proficiency testing surveys. Genet. Med. 2015; 17: 58–62.
  14. Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015;17:70-87.
  15. Domchek S, Weber BL. Genetic variants of uncertain significance: Flies in the ointment. J Clin Oncol. 2008; 26: 16–7.
  16. King MC, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. JAMA 2014; 312: 1091–2.
  17. Centers for Disease Control and Prevention. Screening tests to detect Chlamydia trachomatis and Neisseria gonorrhoeae infections, 2002. MMWR Morb Mortal Wkly Rep. 2002;51(RR15):1-27.
  18.  Lee S.H. Testing for SARS-CoV-2 in cellular components by routine nested RT-PCR followed by DNA sequencing. International Journal of Geriatrics and Rehabilitation. 2020; 2::69- 96.
  19. WHO Information Notice for In Vitro Diagnostic Medical Device (IVD) Users 2020/05 version 1, issued 14 December 2020.
  20. WHO Genomic sequencing of SARS-CoV-2-A guide to implementation for maximum impact on public health. 8 January, 2021.
  21. CDC. COVID-19 vaccine breakthrough case investigation Information for public health, clinical, and reference laboratories