Mass spectrometry assay for congenital adrenal hyperplasia

Patent metadata

Field	Value
Publication number	US-10429396-B2
Application number	US-201815925294-A
Country	US
Kind code	B2
Filing date	Mar 19, 2018
Priority date	Dec 24, 2008
Publication date	Oct 1, 2019
Grant date	Oct 1, 2019

Abstract

Methods are provided for detecting the amount of one or more CAH panel analytes (i.e., pregnenolone, 17-OH pregnenolone, progesterone, 17-OH progesterone, dehydroepiandrosterone (DHEA), androstenedione, testosterone, deoxycorticosterone, 11-deoxycortisol, and cortisol) in a sample by mass spectrometry. The methods generally involve ionizing one or more CAH panel analytes in a sample and quantifying the generated ions to determine the amount of one or more CAH panel analytes in the sample. In methods where amounts of multiple CAH panel analytes are detected, the amounts of multiple analytes are detected in the same sample injection.

First claim

That which is claimed is:

1. A method for determining the amount of 17-OH progesterone in a sample by mass spectrometry, the method comprising:
(i) ionizing the sample under conditions suitable to produce one or more 17-OH progesterone ions detectable by mass spectrometry;
(ii) determining by tandem mass spectrometry the amount of the one or more 17-OH progesterone ions; and
(iii) using the determined amount of the one or more ions to determine the amount of 17-OH progesterone in the sample, wherein the method has a limit of quantitation of 6 ng/dL.

2. The method of claim 1 , wherein the sample has been purified by liquid chromatography prior to being subjected to an ionization source.

3. The method of claim 2 , wherein said liquid chromatography is high performance liquid chromatography, ultra high performance liquid chromatography, or turbulent flow liquid chromatography.

4. The method of claim 1 , wherein the sample has been purified by solid phase extraction prior to ionization.

5. The method of claim 1 , wherein an internal standard is used for determination of the amount of 17-OH progesterone in the sample.

6. The method of claim 5 , wherein the internal standard comprises an isotopically labeled analog of 17-OH progesterone.

7. The method of claim 1 , wherein the sample comprises plasma or serum.

8. The method of claim 1 , wherein the ionizing comprises ionization by electrospray ionization (ESI).

9. The method of claim 1 , wherein the one or more 17-OH progesterone ions comprise one or more ions having a m/z of about 331.0±0.5, 109.0±0.5, and/or 96.9±0.5.

Assignees

• Quest Diagnostics Invest Inc

Inventors

• Ghoshal Amit
• Clarke Nigel J
• Goldman Mildred M

Classifications

• H01J49/004

  Combinations of spectrometers, tandem spectrometers, e.g. MS/MS, MSn · CPC title

• G01N33/6851

  Methods of protein analysis involving laser desorption ionisation mass spectrometry · CPC title

• G01N2800/04

  Endocrine or metabolic disorders · CPC title

• H01J49/0031

  Step by step routines describing the use of the apparatus (H01J49/0081 takes precedence) · CPC title

• H01J49/165

  Electrospray ionisation · CPC title