Neu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by severe congenital malformations leading to prenatal or early postnatal lethality. Main findings include intrauterine growth retardation, microcephaly, ichthyosis, flexion deformities, edema of the hands and feet, and abnormal facial features including abnormal or absent eyelids, flat or abnormal nose, and a round gaping more

Tests Available

By gene: PHGDH
Next Generation Sequencing
Test Code: 2165
Deletion / Duplication
Test Code: 2166
NGS/Del Dup Comprehensive
Test Code: 2167

Related Panels
Neu-Laxova syndrome NGS panel (2 genes)
NGS $1,100
Del Dup $990
Comp $1,300

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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