Prenatal Joubert Syndrome and Related Disorders Panel

Test Overview

Clinical Utility

  • Prenatal imaging findings suggestive of JSRD including molar tooth sign, other structural brain malformations, encephalopcele, renal disease, polydactyl, and cleft/lip palate

Test Details

Genes

AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B

Conditions

  • COACH Syndrome
  • Joubert Syndrome
  • Meckel-Gruber Syndrome
  • Oral-Facial Digital Type 6

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: J803
CPT Codes*: 81405x1, 81406x1, 81407x1, 81408x1, 81479x3
ABN Required: No
Turnaround Time**: 3 weeks
Preferred Specimen: 30 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 30 mg CVS | 5 µg DNA Concentration | POC or other fetal tissue
Minimum Specimen:

20 mL Amniotic Fluid | 20 mg CVS

Samples below the minimum amounts may be accepted, please contact [email protected] in advance to review.

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control. Note that if the submitted specimen requires cell culturing, this will delay the start of testing.

Resources

Test Documents

Billing

Targeted Variant Testing

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