CPT 88262 · Karyotype, Y Microdeletion & CFTR
88262 is the karyotype, 81403 the Y-chromosome microdeletion test, 81220 and 81224 the CFTR tests. Each one is triggered by a number on your semen analysis — here's what they cover, when the guideline calls for them, and what the results mean for having a child.
Genetic testing isn't a first step. The AUA/ASRM male infertility guideline ties each test to a sperm concentration: a karyotype below 5 million/mL or with no sperm, a Y-chromosome microdeletion test at 1 million/mL or less, CFTR testing when the vas deferens is missing. Hera doesn't sell genetic tests — a urologist or reproductive endocrinologist orders them as a blood draw at Quest, Labcorp or the clinic. Hera's role is the semen analysis that produces the number, and the reading that tells you whether you've crossed a threshold.
Karyotype roughly $300–$800 cash · Y microdeletion roughly $200–$500 · CFTR roughly $150–$400 · Hera semen analysis $60 + the lab's price
CPT 88262 is the chromosome analysis itself: the lab examines 15 to 20 cells with banding to count the chromosomes and look for extra, missing or rearranged pieces. It's rarely billed alone. CPT 88230 is the blood lymphocyte culture the lab sets up first to grow enough dividing cells, and CPT 88291 is the cytogeneticist's interpretation and written report. So a 'karyotype' on a claim is usually three lines — 88230, 88262, 88291 — and a cash quote should include all three. The most common abnormal finding in infertile men is 47,XXY, Klinefelter syndrome, present in roughly one in ten men with non-obstructive azoospermia.
The other tests are molecular. CPT 81403 covers Y-chromosome microdeletion analysis — a PCR test for missing segments in the AZFa, AZFb and AZFc regions of the Y chromosome that carry sperm-production genes; it's a Tier 2 molecular pathology code, so the lab names the specific test in the claim. CPT 81220 is the CFTR common-variant panel, and CPT 81224 is the intron 8 poly-T (5T) analysis, a milder CFTR variant that matters mainly for men born without a vas deferens. The two CFTR lines are usually ordered together when congenital absence of the vas is found.
1. Get a semen analysis. Order through Hera — no lab to choose and no doctor's visit. Tell us where you are and we match you to a lab near you; the physician order is included, and we text or email you the location, cash price and collection instructions within one business day.
2. Upload the report. Hera's AI reads every parameter against WHO 2021 limits and tells you plainly whether your concentration sits under 5 million/mL, at or under 1 million/mL, or shows no sperm — the numbers that trigger karyotype and Y-microdeletion testing. Azoospermia should be confirmed on a second sample before anything else.
3. If you've crossed one, see a urologist who treats male infertility or a reproductive endocrinologist. They'll examine you (the vas deferens, testicular size), order the genetic tests as a blood draw at Quest, Labcorp or their clinic, and arrange genetic counseling if anything comes back.
Hera doesn't sell genetic tests. Already have a semen analysis? Upload it to check the thresholds in minutes. Don't have one? Order it and we'll match you to a lab.
Upload your semen analysis — check the thresholds Order a semen analysis — we'll match you to a labGenetic testing for male infertility is three separate tests, one of them billed as three lines, each tied to a specific diagnosis. If a urologist has ordered one, or you're pricing it in cash, these are the codes to look for.
| Code | What it covers |
|---|---|
| 88262 (First-line per AUA guideline) | Karyotype — chromosome analysis of 15 to 20 cells with banding. Finds Klinefelter syndrome and translocations. |
| 88230 | Blood lymphocyte culture — the cell culture the lab sets up before a karyotype; billed as its own line. |
| 88291 | Cytogenetic interpretation and report — the geneticist's read, the third line on most karyotype bills. |
| 81403 | Y-chromosome microdeletion analysis (AZFa, AZFb, AZFc regions) — a Tier 2 molecular pathology code. |
| 81220 | CFTR common variant panel — cystic fibrosis carrier testing when the vas deferens is absent. |
| 81224 | CFTR intron 8 poly-T (5T) analysis — the variant most tied to congenital absence of the vas. |
| Code | What it covers |
|---|---|
| N46.01 (First-line per AUA guideline) | Organic azoospermia — no sperm on the semen analysis; the main trigger for genetic testing. |
| N46.11 | Organic oligospermia — a concentration under 5 million/mL meets the karyotype threshold. |
| Q55.4 | Congenital absence or malformation of the vas deferens — the CFTR trigger. |
| Z31.430 | Male genetic carrier testing for procreative management. |
| Q98.4 | Klinefelter syndrome — the most common finding on a karyotype done for azoospermia. |
Coverage follows the diagnosis: a karyotype or Y-microdeletion test billed with N46.01 (azoospermia) is often paid as diagnostic testing even by plans that exclude fertility treatment, while CFTR carrier testing for a partner under Z31.430 may fall under preconception benefits instead. Tier 2 codes like 81403 sometimes need prior authorization. Ask the ordering office to run the codes past your plan before the draw, and ask the lab for a cash price on all three karyotype lines together.
CPT 88262 — a chromosome analysis of 15 to 20 cells with banding. On a claim it's almost always joined by 88230, the blood lymphocyte culture the lab grows first, and 88291, the cytogeneticist's interpretation and report. All three together are 'the karyotype', and a cash quote should include all three.
The AUA/ASRM male infertility guideline (2020, amended 2024) recommends karyotype testing for men with primary infertility and either azoospermia or a sperm concentration under 5 million/mL (Expert Opinion). Below that line a chromosome abnormality turns up in a meaningful minority of men; the most common is Klinefelter syndrome (47,XXY), which also changes how sperm retrieval is approached.
CPT 81403, a Tier 2 molecular pathology code that covers analysis of the AZFa, AZFb and AZFc regions of the Y chromosome. The guideline recommends it for men with primary infertility and azoospermia or a sperm concentration of 1 million/mL or less (Moderate recommendation, Grade B evidence). It's usually drawn at the same visit as the karyotype.
They predict whether surgical sperm retrieval is likely to work. A complete deletion of AZFa or AZFb means the testes essentially never make mature sperm, and the guideline advises against attempting retrieval. An AZFc deletion is different: many of these men have small pockets of sperm production, and microdissection TESE finds sperm in roughly half or more. Any deletion found is passed to every son conceived through ICSI, so both partners should see a genetic counselor before starting a cycle.
When the vas deferens is absent on exam — congenital bilateral absence of the vas deferens (CBAVD), coded Q55.4 — which is usually a mild form of the cystic fibrosis gene at work. The guideline recommends CFTR mutation carrier testing for men with vasal agenesis (Expert Opinion), billed as CPT 81220 (the common-variant panel) and often 81224 (the intron 8 5T variant). Because retrieval and ICSI work well in these men, the female partner should be tested too, and a renal ultrasound is recommended since a missing kidney travels with some forms of the condition.
Often, yes. Most men with 47,XXY have no sperm in the ejaculate, but microdissection TESE — the retrieval technique the guideline says clinicians should perform for non-obstructive azoospermia (Moderate, Grade C) — finds sperm in about half. Retrieved sperm are used with ICSI, and the risk of passing on an extra X chromosome is low. Testosterone replacement, which many men with Klinefelter eventually need, should wait until after any retrieval attempt, since it shuts down what production there is.
Because every threshold in the guideline is a concentration number: under 5 million/mL for the karyotype, 1 million/mL or less for Y microdeletion, and none at all (confirmed on two samples) for azoospermia. Without the semen analysis, no one can tell whether a $300 to $800 karyotype is indicated. Upload yours to Hera and the AI reads the concentration against these limits in minutes.
No. These tests are ordered by a urologist or reproductive endocrinologist and drawn at Quest, Labcorp or the clinic. Paid in cash, a karyotype (all three lines) runs roughly $300 to $800, Y-chromosome microdeletion roughly $200 to $500, and CFTR testing roughly $150 to $400. Hera's part is the semen analysis before it — $60 plus the lab's price, physician order included — and the reading that tells you whether you've crossed a threshold.