Number of Panel Genes: 
29

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of disorders characterized by malformation of multiple brainstem structures and vermal agenesis with the characteristic neuroradiologic 'molar tooth sign' on MRI. Other findings may include delayed psychomotor development, ataxia, hypotonia, oculomotor apraxia, retinal dystrophy large head, prominent forehead, epicanthal folds, polysyndactyly, renal anomalies, and hepatic fibrosis.read more

Tests Available

29 Panel Genes: AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
Next Generation Sequencing
$1,790
Test Code: 5136
Deletion / Duplication
$1,300
Test Code: 5137
NGS/Del Dup Comprehensive
$2,940
Test Code: 5138

Test Details

Technical Information
Panel Genes: 
AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
Disease Groups: 
Neurological and Muscular Disorders
MIM: 
608629
612291
614209
614175
614615
277170
216360
612285
612284
615991
610188
611755
611134
610189
614464
615636
213300
200990
615990
249000
609583
256100
266900
267010
604387
300804
311200
300209
615665
611560
611561
614173
613885
614815
258860
614465
608091
603194
614970
615397
614424
610688
607361
613550
613820
613819
614844
Billing
Price: 
$1,790
CPT Codes: 
81406 x 1
81407 x 2
81479 x 25
81408 x 1
Ordering
SKU:
5136
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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