Oral-Facial Digital Type 6

Forms and Documents

Test Details

ACTB, ACTG1, ADGRG1, AHI1, AKT3, AMPD2, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B4GAT1, B9D1, B9D2, C5orf42, CASK, CC2D2A, CCND2, CEP104, CEP120, CEP290, CEP41, CHMP1A, CIT, CSPP1, CUL4B, DCHS1, DCX, DYNC1H1, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KATNB1, KIAA0586, KIF1BP, KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE1, MKS1, NDE1, NEDD4L, NPHP1, NPHP3, OCLN, OFD1, OPHN1, PAFAH1B1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN15, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of brain malformations
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

691
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2, 81405x2, 81406x2, 81407x1, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1 (CXORF5), RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and variant forms of Joubert syndrome
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

701
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81407x1, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

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.
  • Prenatal imaging findings suggestive of JSRD including molar tooth sign, other structural brain malformations, encephalopcele, renal disease, polydactyl, and cleft/lip palate
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J803
3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81405x1, 81406x1, 81407x2, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com