Order Test

Request Price
Test Code B0002
Test Summary

This biochemical test analyzes the level of 17 alpha hydroxyprogesterone (17 OHP)

Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

Elevated 17 alpha hydroxyprogesterone levels are associated with congenital adrenal hyperplasia.

  • Individuals suspected of having congenital adrenal hyperplasia.
  • Individuals with a family history of 21-hydroxylase deficiency.

21-hydroxylase deficiency is a disease that causes excessive androgen production in the adrenal glands. There are three distinct types of 21-hydroxylase deficiency: salt wasting, simple virilizing, and non-classic. The salt-wasting form of the disease is the most severe, with an age of onset typically in the fetal or neonatal periods. It has symptoms of excessive loss of sodium in the urine, poor feeding, weight loss, dehydration, vomiting, ambiguous genitalia in females, small testes in males, an early growth spurt, shorter adult height, decreased fertility, hirsutism in females, irregular menstruation, and male pattern baldness. The simple virilizing form has an age of onset in the fetal or neonatal period, with symptoms of ambiguous genitalia in females, small testes in males, an early growth spurt, shorter adult height, decreased fertility, hirsutism in females, irregular menstruation, and male pattern baldness. The non-classic form has an age of onset in adolescence or adulthood with symptoms of hirsutism in females, male pattern baldness, irregular menstruation, decreased fertility, early beard growth, and small testes in males. The incidence of salt-wasting and simple virilizing forms for 21-hydroxylase deficiency is estimated to be ~ 1 in 15,000. The incidence of the non-classic form of 21-hydroxylase deficiency is estimated to be ~ 1 in 1000.

Isoelectric Focusing techniques are utilized to physically separate proteins in a gel matrix.  The sample of mixed proteins, including the analytes, will be isolated from other proteins because this electrophoresis method relies on an electric current and solutions of varied pH to drive the proteins through the gel according to their isoelectric points.  Once the physical proteins are separated, their presence and location in the gel can be viewed for analysis and interpretation.

Dried Blood Spots
Collection Container(s):

Dried blood spot card

Collection:

Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.

Order Test