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Condition



Test Name

Joubert syndrome gene panel

Inclusive Genes



AHI1, ARL13B, B9D1, C2CD3, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, DDX59, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF7, LAMA1, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

Specimen Type

Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)

Container

Transportation Temperature

20-25⁰C CVS at 2-8⁰C POC at 20-25⁰C/ Refrigerated

Volume

Minimum 3ml of peripheral blood; minimum 1 microgram of DNA (concentration of 50-100ng/microliters); 300-500mg of CVS; Amniotic fluid of 15-20ml/T25 culture flask with 100% confluency For Dried Blood Spots (FTA Cards) - Maximum 125 �l of the sample to be spotted per area of the card.Five full blood spots (circles) are required in order to run the tes For Product of Conception (POC) - Fresh placental or fetal tissue(Min: 5 mg) submerged in stable transport media or sterile saline 1.In case of autopsy- skin or tissue from internal organs (if fresh) or placenta from fetal side. 2.If no autopsy is performed: Placenta from fetal side is preferred (e.g. villi) 3.n case of Placenta, maternal cell contamination to be ruled out. Maternal blood sample to be sent along for MCC testing Should NOT FREEZE. Should NOT be placed in formalin

Methodology

Next Generation Sequencing

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