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 mouth.read more

Tests Available

By gene: PHGDH
Next Generation Sequencing
$990
Test Code: 2177
Deletion / Duplication
$990
Test Code: 2178
NGS/Del Dup Comprehensive
$1,365
Test Code: 2179

Test Details

Technical Information
Genes: 
PHGDH
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
601815
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2177
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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