Carrier Status
Recessive-condition carrier flags for Sample Subject relevant to family planning, across the SERPINA1, HBB, CFTR, and HEXA loci. All values below are synthetic and for demonstration only.
Provenance
Per-Gene Findings
SERPINA1 — PiZ Carrier
rs28929474
14:94,844,947
CT
rs28929474 is C/T — one copy of the SERPINA1 PiZ allele. ClinVar classifies this allele as pathogenic for alpha-1 antitrypsin deficiency; this sample is a recessive carrier (one copy).
HBB — HbS (Sickle) Carrier
rs334
11:5,248,232
AT
rs334 is A/T — one copy of the HbS (sickle) allele. ClinVar classifies HbS as pathogenic for sickle cell disease; this sample is a recessive carrier (one copy).
CFTR — ΔF508 Not Detected
rs113993960
7:117,199,644
CC
rs113993960 is C/C — the ΔF508 CFTR allele is not detected. This sample carries the reference genotype at this position.
HEXA — Reference Genotype
rs147324677
15:72,641,302
GG
rs147324677 is G/G — the reference genotype at this HEXA site. The Tay-Sachs–associated variant is not detected at this position.
Genotype Table
| rsID | chr:pos | Genotype | Gene | Significance |
|---|---|---|---|---|
rs28929474 | 14:94,844,947 | CT | SERPINA1 | Tier 1 |
rs334 | 11:5,248,232 | AT | HBB | Tier 1 |
rs113993960 | 7:117,199,644 | CC | CFTR | Tier 3 |
rs147324677 | 15:72,641,302 | GG | HEXA | Tier 3 |