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)
? K751 Glycogentoxicosis GSD Type IV
? K754 Pyruvaatkinase Deficiency (PKDef)
? K762 Progressive Retinal Atrophy (rdAc-PRA)
? K767 Spinal Muscular Atrophie (SMA)
? 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.Please refer to our FAQ-section for a further explanation.
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 at www.pharmaDNA.com.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
Information on individual tests is elsewhere available at www.pharmaDNA.com.
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. Please contact PharmaDNA if you wish to submit other material as listed.
Result
Information on individual tests is elsewhere available at www.pharmaDNA.com.
Inheritance
Information on individual tests is elsewhere available at www.pharmaDNA.com.
Severity of Disease
Information on individual tests is elsewhere available at www.pharmaDNA.com.
