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Achromatopsia
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Alagille syndrome
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IBMDx study
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Kidneyome_SuperPanel
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Liverome Superpanel
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Mackenzie's Mission_Reproductive Carrier Screening
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Myopathy Superpanel
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Pharmacogenomics_Paediatric
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Pierre Robin Sequence
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Prepair 1000+
Prepair 500+
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Renal Cystic Disease_SuperPanel
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Retinal Disorders Superpanel
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Short QT syndrome
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Thyroid Cancer
Transplant Co-Morbidity
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour
Version
Panel Version
1.0
0.280
Gene or Genomic Entity Name
PJVK
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07 Jun 2026
Additional findings_Paediatric v1.0
PJVK
Gene symbol changed from DFNB59 to PJVK during gene set migration (ENSG00000204311 -> ENSG00000204311)