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| Rare diseases are diseases that affect a small number of people compared to the general population. In the US a disease is considered rare when it affects fewer than 200,000 people. Other countries have their own official definitions of a rare disease. They are known as orphan diseases because drug companies were not interested in adopting them to develop treatments. The cause of most rare diseases is genetic defect which can be inherited to generations. Otherwise, rare diseases occur randomly in a person who is the first in a family to be diagnosed. In the US, about 7,000 rare diseases have been identified and test kits have been developed for many of them. We are listing here few examples of tests Biotesting Lab performs for rare diseases. In placing your orders, please indicate the rare disease you are interested in for the test. | |||||||
| Order Code | Test | Purpose | Specimen | Method | |||
| RD-Acute Porphyrias | Urinary aminolevulinic acid (ALA) Porphobilinogen (PBG) | Defects in enzymes involved in the synthesis of heme, the molecule in hemoglobin that binds to oxygen, causes porphyria, a buildup of several compounds, called porphyrins. Acute porphyria lead to severe stomach pain that last for several days. Cutaneous porphyrias cause skin blistering and fragility on sun-exposed areas of the body | Urine | Porphobilinogen deaminase ELISA Kit Huan ALAD ELISA Kit | |||
| RD-Alpha-1 | Alpha-1 Antitrypsin Deficiency | Alpha-1 antitrypsin (AAT) is protein mainly produced by the liver which protects the lungs from inflammation. The disease Alpha-1 is causes by the lack of AAT in the blood. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes for the two parents. Alpha-1 symptoms include Shortness of breath, wheezing; chronic bronchitis, recurring chest colds; less exercise tolerance; year-round allergies; and bronchiectasis, cirrhosis and liver cancer and more. | Blood | Human alpha 1 Antitrypsin ELISA Kit | |||
| RD-DAND | LAMP2 deficiency | Danon disease is a condition characterized by weakening of the heart muscle. People with Danon disease are often affected by a cardiac preexcitation called the Wolff-Parkinson-White syndrome including palpitations, abnormal heartbeat (arrhythmia), or chest pain. Lysosomal Associated Membrane Protein 2 (LAMP2) deficiency, confirmed LAMP2 gene mutation. | Blood | LAMP2 ELISA Kit | |||
| RD-FB | ASAH1 test | In affected individuals with Farber lipogranulomatosis, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. They may suffer from a hoarse voice, a weak cry, lumps of fat under the skin and in other tissues, swollen and painful joints, breathing, an enlarged liver and spleen, and developmental delay. The gene associated with Farber lipogranulomatosis encodes a gene called Acid Ceramidase, an alias name of N-acylsphingosine amidohydrolase 1 (ASAH 1). | Blood | Human Acid ceramidase (ASAH1) ELISA Kit | |||
| RD-TS | Hexosaminidase A | Tay-Sachs disease is caused by a mutation in the hexosaminidase subunit alpha (HEXA) gene. Dexosaminidase A enzyme breaks down the fat known as GM2-ganglioside within cells. Deficiency of this enzyme results in abnormal accumulation GM2-ganglioside in the brain and nerve cells and in a progressive deterioration of the central nervous system. | Blood | Human Hexosaminidase A (HEXa) ELISA Kit | |||