Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)

Congenital insensitivity to pain with anhidrosis is a rare form of hereditary sensory and autonomic neuropathy. Characteristic features are indifference to painful stimuli, self-mutilating behavior, anhidrosis (inability to sweat), corneal ulcers, and sometimes hypogammaglobulinemia and recurrent infections, skin changes, osteomyelitis, bone fractures, and cognitive impairment. The patients\' inability to sweat usually leads to recurrent episodes of unexplained fever and can be fatal due to hyperthermia, especially in infants and small children. The lack of pain sensation is thought to stem from the absence of the dorsal root ganglia responsible for pain sensation, while anhidrosis is due to the loss of innervation of eccrine sweat glands by sympathetic neurons.

Tests Available

Forms and Documents

Test Details

NTRK1
  • Confirmation of the clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with an affected child and known mutation(s)
  • Capillary Sequencing

Ordering

239
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 705 Disorders of sweat glands
  • 778.4 Other disturbances of temperature regulation of newborn, Dehydration fever in newborn, Environmentally induced pyrexia, Hyperthermia in newborn, Transitory fever of newborn
  • 742.8 Other specified anomalies of nervous system, Agenesis of nerve, Displacement of brachial plexus, Familial dysautonomia, Jaw-winking syndrome, Marcus-Gunn syndrome, Riley-Day syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Wieczorek S, et al. Neuromuscul Disord. 2008; 18:681-4
  2. Rotthier A, et al. Brain. 2009; 132:2699-711
  3. Indo Y, et al. Hum Mutat. 2001; 18:462-71
  4. Houlden H, et al. Neurol. 2001; 49:521-5
  5. Kilic S, et al. Neurogenetics. 2009; 10:161-5

Forms and Documents

Test Details

AARS, AIFM1, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SLC52A2, SLC52A3, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, WNK1, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

737
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81260X1, 81324X1, 81325X1, 81403x1, 81404x4, 81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ATL1, DNMT1, IKBKAP, KIF1A, NGF, NTRK1, PRDM12, RAB7A, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T399
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com