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Congenital Central Hypoventilation (PHOX2B polyalanine repeat) (LMGG)
SKU: MD-NLMM520 Categories: , , , , , , , , Tags: , , , , ,

In Stock

Congenital Central Hypoventilation (PHOX2B polyalanine repeat) (LMGG)

฿11,970.00

Additional information

Also Known As

Congenital Central Hypoventilation Syndrome Test
Specimen

EDTA blood 6 ml. (minimum 3 ml.)
Turnaround Time

25 days
Test Code

MD-NLMM520
Test Type

Special
Related Tests

Genetic Disorder Panel, Respiratory Disorder Testing

Detects mutations in the PHOX2B gene associated with congenital central hypoventilation syndrome (CCHS), a rare genetic disorder that affects the control of breathing.

Product tags: Congenital Central Hypoventilation Syndrome Test, Genetic Disorders, None, Respiratory Disorders, Respiratory Distress, Shallow Breathing
Diseases: Genetic Disorders, Respiratory Disorders
Symptoms: Respiratory Distress, Shallow Breathing
Habits: None
Age Groups: Pediatric
Specimens: EDTA Whole Blood
Diagnostic Methods: Sanger Sequencing
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Description

Detects mutations in the PHOX2B gene associated with congenital central hypoventilation syndrome (CCHS), a rare genetic disorder that affects the control of breathing.

This lab test includes home sample collection via a provided kit or by a clinician, and you'll receive a comprehensive physical health report with your results.

Additional information

Also Known As

Congenital Central Hypoventilation Syndrome Test
Specimen

EDTA blood 6 ml. (minimum 3 ml.)
Turnaround Time

25 days
Test Code

MD-NLMM520
Test Type

Special
Related Tests

Genetic Disorder Panel, Respiratory Disorder Testing

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