1 4978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667 2020 © Fulgent Genetics. All Rights Reserved. D# FLY-Neurofibromatosis-2021-V1 General Neurofibromatosis Type 1 (NF1) Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in the world. People with NF1 can have a range of symptoms including café-au-lait (light brown) spots on the skin, neurofibromas (small benign growths) on or under the skin, freckling in the armpits or groin, and more rarely bony abnormalities or optic gliomas (eye tumors). Some children with NF1 have learning disabilities. Type 2 (NF2) Neurofibromatosis type 2 (NF2) is much less common than NF1 and symptoms are not recognized in most people until adulthood. It typically begins with the development of benign tumors in the inner ear called vestibular schwannomas. These tumors can cause hearing loss, ringing in the ears, and balance problems. People with NF2 can also develop other types of benign brain and spinal tumors. WHAT CAUSES NEUROFIBROMATOSIS? NF1 and NF2 are both caused by pathogenic (disease- causing) variants in genes that prevent tumors from growing when they are working normally; these genes are known as tumor suppressors. They play a role in telling cells when to grow and divide. About half of people with NF1 or NF2 inherit the condition from one of their parents. The other half develop it spontaneously through a de novo (new) genetic change. ASSOCIATED CONDITIONS Legius syndrome is a condition that looks similar to NF1 because it can cause multiple café-au-lait spots on the skin, but people with Legius syndrome do not develop neurofibromas or other tumors that are associated with NF1. WHO IS THIS TEST FOR? This panel may be appropriate for anyone who has a personal or family history of features associated with NF1 or NF2, including café-au-lait spots, neurofibromas, or schwannomas. The neurofibromatoses are two separate genetic conditions:
Neurofibromatosis
Dec 16, 2022
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114978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667
2020 © Fulgent Genetics. All Rights Reserved. D# FLY-Neurofibromatosis-2021-V1
General
Neurofibromatosis
Type 1 (NF1)
Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in the world. People with NF1 can have a range of symptoms including café-au-lait (light brown) spots on the skin, neurofibromas (small benign growths) on or under the skin, freckling in the armpits or groin, and more rarely bony abnormalities or optic gliomas (eye tumors). Some children with NF1 have learning disabilities.
Type 2 (NF2)
Neurofibromatosis type 2 (NF2) is much less common than NF1 and symptoms are not recognized in most people until adulthood. It typically begins with the development of benign tumors in the inner ear called vestibular schwannomas. These tumors can cause hearing loss, ringing in the ears, and balance problems. People with NF2 can also develop other types of benign brain and spinal tumors.
WHAT CAUSES NEUROFIBROMATOSIS?
NF1 and NF2 are both caused by pathogenic (disease- causing) variants in genes that prevent tumors from growing when they are working normally; these genes are known as tumor suppressors. They play a role in telling cells when to grow and divide. About half of people with NF1 or NF2 inherit the condition from one of their parents. The other half develop it spontaneously through a de novo (new) genetic change.
ASSOCIATED CONDITIONS Legius syndrome is a condition that looks similar to NF1 because it can cause multiple café-au-lait spots on the skin, but people with Legius syndrome do not develop neurofibromas or other tumors that are associated with NF1.
WHO IS THIS TEST FOR?
This panel may be appropriate for anyone who has a personal or family history of features associated with NF1 or NF2, including café-au-lait spots, neurofibromas, or schwannomas.
The neurofibromatoses are two separate genetic conditions:
224978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667
2020 © Fulgent Genetics. All Rights Reserved. D# FLY-Neurofibromatosis-2021-V1
General
Acceptable Sample Requirements • Blood, two 4-mL EDTA tubes, lavender top • Extracted DNA, 3 μg in EB buffer • Buccal swab or saliva
Turnaround Time 3-5 weeks
Coverage ≥96% at 20x
Customization Customizable Gene list, VUS opt-out
REFERENCES • Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2018 Mar 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1201 • Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2019 Jun 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1109
GET CONNECTED
Schwannomatosis NGS Panel
BENEFITS OF GENETIC TESTING
• Establish or confirm the appropriate diagnosis
• Identify risks for additional health-related symptoms
• Assist in modifying lifestyle changes, including diet and exercise
• Result in more personalized symptom management
• Inform family members about their own risk factors
• Connect patients to relevant resources & support
• Provide options for family planning
334978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667
2020 © Fulgent Genetics. All Rights Reserved. D# FLY-Neurofibromatosis-2021-V1
General
What are the potential results?
Children, siblings, and parents of individuals who have a variant(s) identified in genetic testing could carry the same variant(s) and benefit from testing. Regardless of whether or not a variant was identified, individuals can still be at an increased risk for a genetic condition, especially with a family history.
There are three possible results from genetic testing:
?
What does a genetic test check for?
No, the Genetic Information Nondiscrimination Act (GINA) was signed into law in 2008. It protects individuals from discrimination by an employer or a health insurance company based on genetic testing results and genetic information. GINA does not protect against life and disability insurance discrimination. For more information on GINA, go to www.ginahelp.org.
Genetic testing checks the order of one’s DNA sequence (coded by the letters A, T, G, C) in specific genes linked to genetic conditions. Letters that were added, missing, or changed, are known as variants and can sometimes be harmful to one’s health, increasing the risk for a genetic condition.
Where can I learn more?
Medline Plus/Genetics Home Reference - medlineplus.gov/genetics/understanding National Society of Genetic Counselors - nsgc.org Fulgent Genetics - fulgentgenetics.com/products/carrierscreening/learning.html
Negative No variation known to be associated with a genetic condition was detected in one’s DNA . While a result may not show an increased risk for the condition(s) tested for, one can still be at risk for disease, especially if there is a family history.
Variant of Uncertain Significance (VUS) A variant was detected in one’s DNA, however, not enough information is known about this variant to determine whether or not it is known cause the condition(s) tested for. More research is needed to better understand this variant.
A Patient’s Guide to Genetic Testing
What about family members?
2020 © Fulgent Genetics. All Rights Reserved. D# FLY-Neurofibromatosis-2021-V1
General
Neurofibromatosis
Type 1 (NF1)
Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in the world. People with NF1 can have a range of symptoms including café-au-lait (light brown) spots on the skin, neurofibromas (small benign growths) on or under the skin, freckling in the armpits or groin, and more rarely bony abnormalities or optic gliomas (eye tumors). Some children with NF1 have learning disabilities.
Type 2 (NF2)
Neurofibromatosis type 2 (NF2) is much less common than NF1 and symptoms are not recognized in most people until adulthood. It typically begins with the development of benign tumors in the inner ear called vestibular schwannomas. These tumors can cause hearing loss, ringing in the ears, and balance problems. People with NF2 can also develop other types of benign brain and spinal tumors.
WHAT CAUSES NEUROFIBROMATOSIS?
NF1 and NF2 are both caused by pathogenic (disease- causing) variants in genes that prevent tumors from growing when they are working normally; these genes are known as tumor suppressors. They play a role in telling cells when to grow and divide. About half of people with NF1 or NF2 inherit the condition from one of their parents. The other half develop it spontaneously through a de novo (new) genetic change.
ASSOCIATED CONDITIONS Legius syndrome is a condition that looks similar to NF1 because it can cause multiple café-au-lait spots on the skin, but people with Legius syndrome do not develop neurofibromas or other tumors that are associated with NF1.
WHO IS THIS TEST FOR?
This panel may be appropriate for anyone who has a personal or family history of features associated with NF1 or NF2, including café-au-lait spots, neurofibromas, or schwannomas.
The neurofibromatoses are two separate genetic conditions:
224978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667
2020 © Fulgent Genetics. All Rights Reserved. D# FLY-Neurofibromatosis-2021-V1
General
Acceptable Sample Requirements • Blood, two 4-mL EDTA tubes, lavender top • Extracted DNA, 3 μg in EB buffer • Buccal swab or saliva
Turnaround Time 3-5 weeks
Coverage ≥96% at 20x
Customization Customizable Gene list, VUS opt-out
REFERENCES • Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2018 Mar 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1201 • Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2019 Jun 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1109
GET CONNECTED
Schwannomatosis NGS Panel
BENEFITS OF GENETIC TESTING
• Establish or confirm the appropriate diagnosis
• Identify risks for additional health-related symptoms
• Assist in modifying lifestyle changes, including diet and exercise
• Result in more personalized symptom management
• Inform family members about their own risk factors
• Connect patients to relevant resources & support
• Provide options for family planning
334978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667
2020 © Fulgent Genetics. All Rights Reserved. D# FLY-Neurofibromatosis-2021-V1
General
What are the potential results?
Children, siblings, and parents of individuals who have a variant(s) identified in genetic testing could carry the same variant(s) and benefit from testing. Regardless of whether or not a variant was identified, individuals can still be at an increased risk for a genetic condition, especially with a family history.
There are three possible results from genetic testing:
?
What does a genetic test check for?
No, the Genetic Information Nondiscrimination Act (GINA) was signed into law in 2008. It protects individuals from discrimination by an employer or a health insurance company based on genetic testing results and genetic information. GINA does not protect against life and disability insurance discrimination. For more information on GINA, go to www.ginahelp.org.
Genetic testing checks the order of one’s DNA sequence (coded by the letters A, T, G, C) in specific genes linked to genetic conditions. Letters that were added, missing, or changed, are known as variants and can sometimes be harmful to one’s health, increasing the risk for a genetic condition.
Where can I learn more?
Medline Plus/Genetics Home Reference - medlineplus.gov/genetics/understanding National Society of Genetic Counselors - nsgc.org Fulgent Genetics - fulgentgenetics.com/products/carrierscreening/learning.html
Negative No variation known to be associated with a genetic condition was detected in one’s DNA . While a result may not show an increased risk for the condition(s) tested for, one can still be at risk for disease, especially if there is a family history.
Variant of Uncertain Significance (VUS) A variant was detected in one’s DNA, however, not enough information is known about this variant to determine whether or not it is known cause the condition(s) tested for. More research is needed to better understand this variant.
A Patient’s Guide to Genetic Testing
What about family members?
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