Description

Peripheral Blood Analysis with Reflex Microarray

This test evaluates chromosomal number and structure using a peripheral blood specimen. It begins with a standard karyotype and may reflex to chromosomal microarray (CMA) if additional resolution is indicated.

Overview

Chromosomal analysis assesses both large structural abnormalities and smaller genomic copy number variations.

The initial karyotype evaluates chromosome structure and number. If findings are normal but clinical suspicion remains, reflex microarray may be performed to detect submicroscopic abnormalities.

This stepwise approach allows broader chromosomal evaluation with higher-resolution analysis when needed.

What This Test Can Detect

Karyotype detects:

  • Extra or missing chromosomes
  • Large deletions or duplications
  • Structural rearrangements (translocations, inversions)
  • Mosaic chromosomal patterns (moderate levels)

Microarray may detect:

  • Submicroscopic deletions or duplications
  • Copy number variants (CNVs)
  • Smaller genomic imbalances not visible on karyotype

Common Clinical Uses

This test is often selected in the evaluation of:

  • Suspected mosaic chromosomal conditions
  • Developmental delay or autism spectrum disorders
  • Congenital anomalies of unclear cause
  • Recurrent pregnancy loss
  • Infertility evaluation
  • Chromosomal clarification after screening tests

Mosaic Chromosome Evaluation

Peripheral blood chromosome analysis is commonly used when mosaic chromosomal conditions are suspected.

Karyotype may detect mixed cell populations, while microarray can identify smaller copy number changes depending on mosaic percentage.

In some cases, additional specimen types may be recommended for further clarification.

Turnaround Time

Turnaround time varies by laboratory:

  • Karyotype: typically 1–2 weeks
  • Reflex microarray (if performed): additional processing time

Test Details

Sample Type: Peripheral blood draw Method: Karyotype with reflex chromosomal microarray Fasting: Not required

Disclaimer

Labs By Request provides direct-access laboratory testing. Genetic test results should be interpreted in the context of clinical history and may warrant genetic counseling in certain situations.