Genomic Unity® Prenatal Analysis

RPG001

Genomic Unity® Prenatal Analysis is a clinical diagnostic test designed to identify genetic variants that correlate with clinical symptoms manifested in a fetus or a pregnancy, or that lead to severe early onset genetic disorders.

Order this test when amniocentesis has been determined to be medically necessary due to ultrasound abnormalities.

  • Genome-wide sequence analysis of pathogenic/likely pathogenic variants that correlate with prenatal findings and/or are predicted to result in severe, early onset genetic disorders.
  • Genome-wide structural variant analysis including: copy number variants, duplications/deletions, regions of homozygosity, mobile element insertions, inversions, and aneuploidy
  • STR analysis of: AR, DMPK, FMR1, FXN 
  • Mitochondrial genome sequence and large deletion analysis

Optionally includes: 

  • Variants of Uncertain Significance (VUS) if correlated with the clinical symptoms of the fetus, the pregnancy, and/or the family history
  • ACMG Secondary Findings 
  • Rapid FISH analysis of chromosomes 13, 18, 21, X and Y 

Maternal cell contamination (MCC) is determined for quality control purposes. Parental inheritance will be identified for reported variants.

  • 81415, 81416 (xN), 81229, 81265
  • Optional - 81425, 81426 (xN), 81228, 81265

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

SNVs and Indels up to 50bp

99.1% sensitivity
99.2% positive predictive value

Structural variants:
96% clinical sensitivity

Mitochondrial variants:
Reported when homoplasmic

Short tandem repeats:
Due to the variable nature of repetitive sequence and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

Amniotic fluid - 20ml
Cultured cells
Fetal gDNA - 5μg
Parental blood - 5ml

A report will be issued within 20-30 days from sample receipt. If elected, a preliminary report based on FISH will be issued within 3-5 days for aneuploidies of 13, 18, 21, X and Y.  

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If you need to submit Protected Health Information (PHI), please call us at 617-209-2090 and we will work with you to submit the information through an alternate mechanism.

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