- ABOUT GENEDX
- TESTS OFFERED
- SEND A SPECIMEN
- ORDER BUCCAL KITS
- FINANCIAL POLICY
- PRICES & CPT CODES
- SUGGEST A TEST!
- CONTACT US



![]() |
![]() |
For recessive disorders, testing of both parents is an essential aspect of accurate prenatal diagnosis.
Previous Testing Performed By | ||||
GeneDx | Other CLIA Laboratory | Research Laboratory | ||
STEPS for Recessive Disorders | ||||
1 | Submit the outside molecular lab results to GeneDx for review and pre-approval | Not necessary | Required | Required |
| 2 | If possible provide DNA from the proband as a control* | Not necessary | Recommended* | Strongly Recommended* |
3 | Order Parental carrier testing (#9011 or #9012 below) for each parent, ideally 1 month or more in advance. | Strongly Recommended if not already done at GeneDx | Strongly Recommended if not already done at GeneDx | Required if not already done at GeneDx |
4 | Submit a fetal specimen for prenatal diagnosis (#902 below). Parental specimens must accompany the fetal specimen, if not sent within 6 months, even if parental carrier tests are not ordered. | TAT will be 2 weeks in most cases | TAT will be 2 weeks in most cases, if Step 3 is already complete | TAT will be 2 weeks in most cases, if Step 3 is already complete |
9001 | Mutation Confirmation for research results, one mutation, heterozygous or homozygous. $350. For independent confirmation send fresh blood, 1-3 mL in EDTA, or a GeneDx buccal kit. If a fresh specimen is not available, 5 mcg stored DNA will be accepted. An individual report is provided. TAT 4 weeks. For CPT codes see the Information Sheet under Mutation Confirmation on the main web menu. |
9002 | Mutation Confirmation as above, for two distinct mutations. $500. |
9011 | Carrier Testing for one familial mutation. $350. Specimens can be 1-3 mL EDTA blood, a GeneDx buccal kit, or 5 mcg DNA. An individual report is provided. TAT 4 weeks. For CPT codes see the Information Sheets under Carrier Test on the main web menu. |
9012 | Carrier Testing as above, for two distinct mutations. $500. When the proband has two distinct mutations both parents must be tested for both mutations. |
902 | Prenatal diagnosis for one or two mutations. $2000. Includes duplicate analysis, testing for maternal cell contamination, and internal control tests. Specimens include 10 mg CVS, 10 mL AF if >15 wks, 2 confluent CV or AF culture flasks. TAT is usually 2 weeks if parental controls have been successfully tested in advance. |
For specimen requirements click here to go to Amnio/CVS/Cultures under Send a Specimen