Background

This combination package includes DNA-tests for:
• K386 Mucopolysaccharidosis I
• K504 Periodic paralysis (WNK4 - Hypokalemia)
• K597 Congenital Adrenal Hyperplasia
• K598 Dihydropyrimidinase Deficiency
• K599 Hyperlipoproteinaemia
• K600 Niemann-Pick C1 Disease
• K601 Primary Hyperoxaluria II
• K640 Gangliosidosis, GM2, type II - 1
• K641 Vitamin D-deficiency rickets, type I
• K646 Gangliosidosis, GM2, GM2A
• K647 Gangliosidosis, GM2, type II - 2
• K649 Hypothyroidism
• K650 Mucopolysaccharidosis VII
• K651 Mucopolysaccharidosis VI
• K656 Haemophilia B - 1
• K657 Haemophilia B - 2
• K711 Polycystic Kidney Disease (PKD)
• K725 Hypertrophic Cardio Myopathy 1 (HCM1)
• K754 Pyruvaatkinase Deficiency (PKDef)
• K762 Progressive Retinal Atrophy (rdAc-PRA)
• K793 Bloodtyping AB (DNA test)
• K799 Hypertrophic Cardio Myopathy 3 (HCM3)

A small possibility exists that one or two tests which are part of a combination package will not provide results. Because of the low pricing of the combination packages, we cannot retest a single marker if this marker fails in a combination package.

If a particular test is highly important to you, we recommend that you order such a marker as a single test in our webshop. If needed, repeated testing is routinely performed on all single tests without extra costs.

Test specific information

PharmaDNA introduces a different strategy for DNA tests for several genetic markers. Recently, technical improvements have allowed for the combination of several genetic markers in one test.

Several tests are available in different breeds. For the different mutations, clinical studies linking a mutation to HCM are not always available. It is up to the owner to decide which test to perform.

Based on a recent inventory at other laboratories, we have learned that the test for HCM2 is not offered internationally. Consequently, we have contacted researchers in the USA. Based on our current information, we have decided to remove the HCM2 test as of the end of February 2012 from the Combination Package for Hereditary Diseases. For the moment, the HCM2 test remains available as a separate test.

Age

Information on individual tests is elsewhere available on this website.

Throughput

The turn-around-time of a test depends to a large extent on the logistics of sample transportation to the laboratory. After receiving the sample at the test location, you can normally expect the result within 10-15 working days. A longer delivery time applies to tests carried out by a Partner Lab.

Location of disease or trait

Information on individual tests is elsewhere available on this website.

Breed dependence

For this test samples from all breeds are accepted.

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Swab.

Result

Information on individual tests is elsewhere available on this website.

Inheritance

Information on individual tests is elsewhere available on this website.

Severity of Disease

Information on individual tests is elsewhere available on this website.