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SALSA MLPA Probemix P050 CAH

Congenital adrenal hyperplasia (CAH)

Region: CYP21A2 6p21.3

General information: The SALSA MLPA Probemix P050 CAH is a research use only (RUO) assay for the detection of large CYP21A2 gene deletions, which are associated with Congenital Adrenal Hyperplasia (CAH). This probemix should be used in conjunction with sequence analysis. Some frequent point mutations in the CYP21A2 gene can also be detected with this probemix, but reciprocal exchanges between CYP21A2 and its pseudogene will be missed.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder which results from a deficiency in one of the enzymes involved in cortisol biosynthesis. CAH affects about 1 in 5,000 births, with a carrier frequency of 1 in 35. In about 95% of cases, CAH is caused by deficiency of the steroid 21-hydroxylating enzyme encoded by the CYP21A2 gene. The inactive pseudogene CYP21A1P is located at a very close distance from CYP21A2. Both genes have 10 exons and are about 3.4 kb long. The great majority of the CYP21A2 mutant alleles arise through recombination between CYP21A2 and CYP21A1P. Approximately 20% of mutant alleles have DNA deletions of 30 kb that have been generated by unequal meiotic crossing-over, whereas 75% are due to gene conversion events, where an inactivating mutation is present in the CYP21A2 gene that is usually only present in the CYP21A1P pseudogene.

Other genes in this unstable chromosomal region are the closely related complement genes C4A and C4B and the TNXB gene and its pseudogene TNXA.

Probemix content: The SALSA MLPA Probemix P050-C1 CAH contains contains 27 MLPA probes with amplification products between 130 and 382 nucleotides (nt) This includes eight probes for the CYP21A2 gene and four probes for the CYP21A1P pseudogene. The probemix furthermore contains six probes for the TNXB gene and one for the ATF6B gene in order to further define CYP21A2 gene deletions. In addition, eight reference probes are included which detect eight different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (

This probemix contains ten quality control fragments generating amplification products between 64 and 118 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one Benchmark Fragment, and one chromosome X and two chromosome Y-specific fragments. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at

SALSA Reference Selection DNA SD039: The selection of suitable reference DNA samples that can be used with P050 CAH is complicated. To facilitate the selection of suitable reference DNA samples from your own sample collection, a reference selection DNA sample (catalogue number SD039) is provided with this probemix from MRC-Holland. Reference selection DNA SD039 should only be used for initial experiments on DNA samples from healthy individuals with the intention to identify suitable reference samples. SD039 should not be used as a reference sample in subsequent experiments. For further details, consult the Reference Selection DNA SD039 product description, available online:

It is strongly advised to use test DNA samples and reference DNA samples extracted with the same method and derived from the same source of tissue. For certain applications, the selection of suitable reference DNA samples is complicated. Inclusion of one reaction with 5 μl SD039 Reference Selection DNA facilitates the identification of suitable reference DNA samples. For further instructions, consult the SD039 Reference Selection DNA product description provided. SD039 contains human genomic DNA purified from a selected cell line. This cell line contains one copy/cell for the two CYP21A2 alleles at the I2G mutation location and one copy/cell for the sequence detected by the chromosome Y specific MLPA probe in the P050-C1 probemix. Furthermore, it contains two copies/cell of each sequence detected by the other MLPA probes in this probemix, including the six other CYP21A2 probes and the four CYP21A1P pseudogene-specific MLPA probes. This product is for research use only (RUO).

Sample DNA
Sample DNA developed for this product:

Order Items


Item no.
SALSA MLPA Probemix P050 CAH – 25 rxn
€ 243.00
SALSA MLPA Probemix P050 CAH – 50 rxn
€ 486.00
SALSA MLPA Probemix P050 CAH – 100 rxn
€ 972.00

Required Reagents

Item no.
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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