The Chondrodysplasia punctata and related disorders NGS panel consists of ten genes for X-linked chondrodysplasia punctata (CDPX), rhizomelic chondrodysplasia punctata (RCDP), peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD), Greenberg skeletal dysplasia (GRBGD), CHILD syndrome and Keutel syndrome (KTLS). Common features in CDPX include punctiform calcification of bones and stippled epiphyses. CDPX2, also known as Conradi-Hunermann-Happle syndrome, is characterized by asymmetric shortening of the limbs, flat face, saddle nose, cataracts, ichthyosis, coarse hair, and alopecia. CDPX2 is associated with striking clinical intra- and inter-familial variability, from mild to lethal. CDPX1 is characterized by short distal phalanges, moderate growth disturbance, symmetric involvement of limbs, nasal hypoplasia and dysmorphic faces. Ichthyosis and developmental delay have been reported in contiguous gene syndrome patients.  RCDP is characterized by disproportionate short stature with rhizomelic limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, and seizures. Radiographs of infants with RCDP show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral bodies. The punctate calcifications generally resolve by one year of age leaving abnormal epiphyses and flared, irregular metaphyses. Most individuals with classic RCDP do not survive the first decade of life. PFCRD shares some features of RCDP, but this disorder is mainly characterized by growth retardation, microcephaly, severely delayed psychomotor development and seizures.  The main findings in GRBGD include severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, ectopic ossification centers, and hydrops fetalis. CHILD syndrome clinically overlaps with CDPX2. Its clinical findings consist of congenital hemidysplasia with ichthyosiform erythrodema and limb defects. KTLS is characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification.

Copy number variation (CNV) analysis of the chondrodysplasia punctata and related disorders panel genes using a high density targeted (HDT) array is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS panel and HDT array panel) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.

The Chondrodysplasia punctata and related disorders NGS panel consists of ten genes: AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5 and PEX7.