Test Directory

Non-Prenatal Specimens

Prenatal Specimens

Either specimen type below is acceptable.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

• Transport at room temperature within 24 hours.
• If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
• Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 

• Improperly labeled specimen (minimum of two patient identifiers)
• Inappropriate specimen type
• Incomplete or incorrect test request form
• Insufficient volume
• Specimen has leaked in transit
• Specimen without a test order

• CDPX
• RCDP
• PFCRD
• GRBGD
• KTLS
• CDPX2

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.

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