Netherton Syndrome

Netherton syndrome (NTS) is a congenital disorder of the skin, hair and the immune system. NTS usually manifests at birth with generalized redness and scaling of the skin resembling non-bullous congenital ichthyosiform erythroderma (NCIE) or, rarely, with a collodion membrane. Generalized erythema and scaling may either persist lifelong, or develop into itchy, scaling plaques called “ichthyosis linearis circumflexa”. Associated are hair shaft abnormalities, in particular “bamboo hair” also known as “trichorrhexis invaginata”, which may lead to diffuse alopecia of the scalp and loss of eyebrows and eyelashes. Most patients have highly elevated serum levels of Immunoglobulin E and various allergies. In severe cases, failure to thrive, growth retardation, and immune defects resulting in serious recurrent infections may complicate NTS.

Tests Available

Forms and Documents

Test Details

SPINK5
  • Confirmation of the clinical diagnosis
  • To distinguish NTS from other forms of NCIE
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutation
  • Capillary Sequencing

Ordering

127
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 795.79 Other and unspecified nonspecific immunological findings, Raised antibody titer, Raised level of immunoglobulins
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Chavanas et al. Nat Genet. 25(2):141-142, 2000
  2. Sprecher et al. J Invest Dermatol 117(2):179-87, 2001
  3. Bitoun et al. J Invest Dermatol 118:352-361, 2002a
  4. Bitoun et al. Prenat Diagn. 22(2):121-126, 2002b
  5. Richard et al. Netherton Syndrome: J Invest Dermatol 122:483A, 2004

Forms and Documents

Test Details

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, FLG, GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30), KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4(Ichthyin), PEX7, PHGDH, PHYH, PNPLA1, PNPLA2, POMP, PSAT1, SDR9C7, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
  • Identification of the specific molecular basis of congential ichthyosis or related skin disorders
  • Genetic counseling and recurrence risk assessment
  • Option for prenatal testing in future pregnancies

As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.

Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.\\\"

  • Next-Gen Sequencing

Ordering

708
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81252x1, 81254x1, 81479x11
Yes
Yes
* For price inquiries please email zebras@genedx.com