Genetic Testing for Retinitis Pigmentosa

Around 30% of Retinitis Pigmentosa (RP) cases are inherited in an autosomal dominant pattern, while the rest can be inherited in recessive, X-linked, and even mitochondrial patterns.¹ It is estimated to affect about 1 in 3,000 to 1 in 4,000 people.² RP involves a breakdown and loss of retina cells, which eventually leads to loss of vision. Early symptoms of RP include night blindness, followed by loss of peripheral vision.

About Retinitis Pigmentosa Panel

Who should consider testing

People with a family history of retinitis pigmentosa
People with a clinical suspicion of retinitis pigmentosa to facilitate diagnosis of the disease
People with a clinical diagnosis of retinitis pigmentosa to confirm the disease-causing genes

What can you learn from the test?

The test helps differentiate retinitis pigmentosa (RP) and RP-related disorders. By finding out the disease-causing gene and inheritance pattern, it can help understand the disease prognosis and treatment strategy.

Screening of

99

eye disease genes in one test

Associated with

68

Eye disorders

Accurate diagnosis in just

6 weeks

Get Full Gene List

Fast and accurate confirmatory diagnosis of disease

By integrating genetic and clinical information, our tests speed up medical diagnosis of inherited disorders.

Predicting disease prognosis

Disease severity is partially related to the inheritance pattern. X-linked cases are the severe form of Retinitis Pigmentosa.

Plan for your life and your family

You may then identify carriers in your family and make decisions about family planning.

The process

1

Order and receive a saliva collection kit.

2

Register the sample collection tube barcode online, then take a sample.

3

Mail the kit back to Codex’s laboratory for analysis.

4

Results are provided to you securely on the codex website within six weeks from receipt of sample.

A high accuracy standard

Steps	Accuracy
DNA sequencing	99.9%
Variant calling – SNP	>99%^*^#
Variant calling – Indel	>99%^*^#

* Passed GenQA/UK NEQAS external quality assurance

# The interpretation of sequencing variants is based on the current understanding of the variants at the time it was observed, which may change over time as more information about the genes becomes available. Not all variants are represented in this report.

Source:

Daiger SP, Bowne SJ, Sullivan LS. Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa. Cold Spring Harb Perspect Med. 2014.
NORD – National Organization for Rare Disorders. Rare Disease Database. Retinitis Pigmentosa.

The services provided by Codex Genetics are for research use only, and they are not suitable for diagnostic and/or treatment use, unless otherwise instructed by licensed medical professionals.

除非有醫療專業人員另行指示，此網站的服務只供研究用途，並不供作診斷或治療任何疾病之用。

Genetic Testing for Retinitis Pigmentosa

About Retinitis Pigmentosa Panel

Who should consider testing

People with a family history of retinitis pigmentosa

People with a clinical suspicion of retinitis pigmentosa to facilitate diagnosis of the disease

People with a clinical diagnosis of retinitis pigmentosa to confirm the disease-causing genes

What can you learn from the test?

Screening of

99

eye disease genes in one test

Associated with

68

Eye disorders

Accurate diagnosis in just

6 weeks

Fast and accurate confirmatory diagnosis of disease

By integrating genetic and clinical information, our tests speed up medical diagnosis of inherited disorders.

Predicting disease prognosis

Disease severity is partially related to the inheritance pattern. X-linked cases are the severe form of Retinitis Pigmentosa.

Plan for your life and your family

You may then identify carriers in your family and make decisions about family planning.

The process

1

Order and receive a saliva collection kit.

2

Register the sample collection tube barcode online, then take a sample.

3

Mail the kit back to Codex’s laboratory for analysis.

4

Results are provided to you securely on the codex website within six weeks from receipt of sample.

A high accuracy standard

Contact our Customer Service to obtain a full gene list

Leave a message

Pinpointing genetic uniqueness