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Molecular Testing for Albinism

Last updated Feb. 21, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Molecular Testing for Albinism is a genetic test that is helpful the diagnosis of Albinism. The lab test results may also be subsequently useful in taking appropriate treatment decisions.


What are other Names for this Test? (Equivalent Terms)

  • Gene Mutation Analysis for Albinism
  • Test for Molecular Diagnosis of Albinism

What is Molecular Testing for Albinism? (Background Information)

  • Molecular Testing for Albinism is a genetic test that is helpful the diagnosis of Albinism. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Albinism is a group of inherited abnormalities characterized by a partial or total absence of the pigment melanin, which gives color to the eyes, hair, and skin. It is a congenital defect that causes a pale, whitish appearance of the skin, eyes, and hair, due to low or absent pigmentation
  • There are 2 subtypes of albinism, namely, the oculocutaneous albinism and ocular albinism. In the oculocutaneous subtype, the skin, hair and eyes are affected, whereas in the ocular form, only the eyes are involved
  • Lack of or reduced pigmentation in the eyes, either alone, or in combination with very pale skin and hair, as well as light sensitivity of the eyes and skin, are the major symptoms of this condition

Albinism is caused by genetic mutations. Currently, studies indicate defects in several genes cause this disorder.

  • The genes whose mutations cause the oculocutaneous subtype are part of the melanin synthesis and/or distribution pathways. Some examples of the causative genes are TYRP1, SLC45A2, SLC24A5, and C10orf11
  • The ocular subtype is caused by mutation(s) in the G protein-coupled receptor 143 (GPR143) gene, which is involved in the regulation of melanosomes, the sites of melanin synthesis and storage
  • Molecular gene testing may be helpful in confirming the initial diagnosis of albinism, as well as identify the specific gene(s) that cause the condition

A positive or negative test result should always be interpreted in the context of the individual’s overall signs and symptoms.

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization techniques, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for albinism may vary from one laboratory to another.

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the Molecular Testing for Albinism Test?

Molecular Testing for Albinism is undertaken in the following situations:

  • To assist (and in some cases, confirm) the initial diagnosis of albinism
  • If there is a family history of albinism
  • To distinguish other conditions that have similar features (signs and symptoms)
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen Collected for Molecular Testing for Albinism?

The type and source and specimen sample requirements will depend on the preference of the individuals and the preference of the testing lab. Thus, it may vary from one individual to another and from one lab to another. Therefore, it is important to contact the testing lab for exact specimen requirements, before initiating the collecting and testing process.

Following is the specimen collection process for Molecular Testing for Albinism:

  • Sample on which the test is performed may include:
    • Peripheral blood in individuals showing signs and symptoms suspected of albinism
    • Bone marrow biopsy specimen
    • For mitochondrial DNA testing, usually a muscle biopsy or a liver biopsy is preferred
    • In case of expectant mothers, prenatal testing through amniotic fluid and chorionic villi sampling
    • Fetal cord blood
    • Fresh tissue from biopsy
    • Fresh tissue from autopsy sample
    • Fresh tissue from fetal demise
    • Buccal brushes: Using the kit that is provided by the testing laboratory, buccal brushes can be used to collect the specimen, by scraping the inner cheek lining (buccal mucosa)
    • Oral rinse specimens
    • Body fluids such as saliva, tears, and semen
    • Dried blood spots: This specimen type is usually requested in situations where the collection and/or shipping of whole blood is not practical
    • In some cases, hair samples (with attached roots), finger nails, and buccal swabs, may be acceptable
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Products of conception sample from aborted pregnancy
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility

Important Information:

Limitations of specimen while testing for albinism

  • For blood specimens: Individuals, who have received platelet transfusions, red blood transfusion, or white blood (leukocyte) transfusion, should wait at least 4 weeks before providing a blood specimen
  • The following specimens may not be acceptable in individuals who have received heterologous bone marrow transplant (in the past):
    • Peripheral blood samples
    • Oral rinse specimens
    • Bone marrow biopsy specimens
  • Testing for albinism should not be performed on a transplanted organ/specimen, since the genetic material belongs to the donor and not to the individual being tested
  • Formalin-fixed paraffin-embedded solid tumor tissue: In many cases, FFPE tissue blocks are usually not acceptable. Please contact the testing lab to ascertain, if it is an acceptable sample specimen
  • In some cases, a different source of specimen may be acceptable to the laboratory performing the test

Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing.

Turnaround time for test results

  • Depending on the location of testing, it may take from 2 to 8 weeks from the time of sample collection, to obtain the test results

Sample storage information

  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tissue specimen over time

Cost of Molecular Testing for Albinism:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, whether your healthcare provider/facility is in-network or out-of-network of your insurance company
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care, if required

What is the Significance of the Molecular Testing for Albinism Result?

The significance of Molecular Testing for Albinism is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of albinism
  • The result can help exclude other tumors with similar histological features, or help eliminate other conditions presenting similar signs and symptoms
  • It can help determine the prognosis of the patient
  • Help in management of the condition following birth of the child
  • In some cases, the test results may help in taking treatment decisions
  • Individuals showing a positive test result during pregnancy may benefit from genetic counseling
  • If there is a family history of the condition, then genetic counseling may be required to help assess the risk, before planning for a child

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test
  • Additional mutations are still being discovered in many of these tumors. This may further contribute towards tumor diagnosis and treatment. Please consult with your healthcare provider for any information updates

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 27, 2017
Last updated: Feb. 21, 2018