Invitae Bone Marrow Failure Syndromes Panel

Casandra

Casandra Test Code IN05301Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 05301

Invitae Bone Marrow Failure Syndromes Panel

Clinical Use

Use

The Invitae Bone Marrow Failure Syndromes Panel analyzes genes associated with bone marrow failure, a condition marked by the body's inability to produce enough healthy blood cells. Given the genetic heterogeneity of bone marrow failure syndromes, genetic testing across a broad panel of genes provides efficient evaluation based on a single clinical indication. This panel helps confirm clinical diagnoses, predict disease prognosis and progression, detect symptoms early, inform family planning and genetic counseling, and facilitate involvement in clinical trials. The test aims to identify heritable germline mutations, not somatic mutations.

Special Instructions

If a patient has undergone an allogeneic bone marrow or stem cell transplant before genetic testing or currently has a condition with actively circulating tumor cells, using a sample type not derived from blood is recommended. For more details on specimen selection, contact Invitae's Clinical team.

Limitations

The test achieves high analytical sensitivity and specificity for variants <15bp and certain copy number changes. However, large structural variants, complex rearrangements, or variants in promoter and non-coding regions may not be detected or fully resolved. Some details like mosaicism or phasing may remain unresolved. Single-exon events might not be analyzed under specific conditions.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

The panel performs full-gene sequencing, covering clinically important regions, including coding exons, adjacent intronic sequences, and select non-coding variants. The analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp is >99%.

Full-gene sequencing and deletion/duplication analysis • Targeted