Dr. van Haeringen Laboratorium B.V.

H929 Cystinuria English Bulldog and French Bulldog Type

Background

Cystinuria is a genetic disorder that leads to recurrent urolith formation. The disorder is caused by mutations in the SLC7A9 and SLC3A1 gene. The mutation causes hyperexcretion of cystine in the urine and sebsequent precipitation of cystine. The inheritance of the genetic disorder is autosomal recessive.

Clinicial signs include cystine stones in the kidneys, ureters, and bladder. However, once a stone is formed, the following signs and symptoms can occur nausea, flank pain, urinary tract infections and rarely, acute or chronic kidney disease.

We test the following markers:

Marker RVO Gene Genomic location Chromosome Reference genome
Cystinuria H928 SLC7A9 g.119209134 1 CanFam3.1
Cystinuria H926 SLC3A1 g.46705989 10 CanFam3.1
Cystinuria H927 SLC3A1 g.46735617 10 CanFam3.1

Test specific information

This test is based on a genome wide association study. This study described multiple DNA variants that may be related to cystinuria. Each DNA variant is a “risk factor”. The inheritance is not yet known, but an incompletely recessive pattern is suggested.

Age

Turnaround time

The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.

The TAT of tests performed at our facilities is normally 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 20 working days are therefore an estimate.

PLEASE NOTE
Sometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.

Location of disease or trait

This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.

Breed dependence

This DNA test is available for the following breeds: English Bulldog, French Bulldog. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Swab, Semen, Tissue. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

Result

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).

Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease

-

Code H929

Cystinuria English Bulldog and French Bulldog Type

€ 57,48 (Incl. 21% VAT)
€ 47,50 (Excl. VAT)
Quantity