Males:
Presence of a full mutation with complete methylation is associated with mental retardation. Methylation mosaicism and/or premutation along with a full mutation has been shown to reduce the severity of mental retardation.
Females:
A premutation in a female is not associated with mental retardation. The presence of a full mutation in a female carries approximately 30% risk of mild mental retardation.
The chance that a premutation could expand to a full mutation when passed from a female carrier to her offspring is shown in the following table:
|
Premutation CGG repeats |
Risk of Expansion to Full Muatation |
|
55-59 |
4% |
|
60-69 |
5% |
|
70-79 |
31% |
|
80-89 |
58% |
|
90-99 |
80% |
|
>99 |
approx 100% |
Adult onset disease:
Fragile X-associated tremor / ataxia syndrome (FXTAS). An FMR-1 premutation may confer an adult risk for tremor and ataxia. Not all men with an FMR-1 premutation will develop FXTAS. The risk of developing FXTAS is age dependent and ranges from 17% (age 50- 59), 38% (age 60-69), 45% (age 70- 79) and 75%(age >= 80). However, it is estimated that only 20-30% of men with an FMR-1 premutation will develop the syndrome.
FMR-1 related premature ovarian failure (POF): Women with an FMR-1 premutation have an approximately 21% risk of developing POF as opposed to 1% in the general population.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Results are reported as "No Mutation Detected", "Pre-mutation Present" or "Full Mutation Present".
Number of CGG repeats is also reported.
|
Result |
CGG Repeats |
|
Normal |
< 45 |
|
Intermediate |
45-54 |
|
Premutation |
55-200 |
|
Full mutation |
>200 |
Males:
Presence of a full mutation with complete methylation is associated with mental retardation. Methylation mosaicism and/or premutation along with a full mutation has been shown to reduce the severity of mental retardation.
Females:
A premutation in a female is not associated with mental retardation. The presence of a full mutation in a female carries approximately 30% risk of mild mental retardation.
The chance that a premutation could expand to a full mutation when passed from a female carrier to her offspring is shown in the following table:
|
Premutation CGG repeats |
Risk of Expansion to Full Muatation |
|
55-59 |
4% |
|
60-69 |
5% |
|
70-79 |
31% |
|
80-89 |
58% |
|
90-99 |
80% |
|
>99 |
approx 100% |
Adult onset disease:
Fragile X-associated tremor / ataxia syndrome (FXTAS). An FMR-1 premutation may confer an adult risk for tremor and ataxia. Not all men with an FMR-1 premutation will develop FXTAS. The risk of developing FXTAS is age dependent and ranges from 17% (age 50- 59), 38% (age 60-69), 45% (age 70- 79) and 75%(age >= 80). However, it is estimated that only 20-30% of men with an FMR-1 premutation will develop the syndrome.
FMR-1 related premature ovarian failure (POF): Women with an FMR-1 premutation have an approximately 21% risk of developing POF as opposed to 1% in the general population.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Results are reported as "No Mutation Detected", "Pre-mutation Present" or "Full Mutation Present".
Number of CGG repeats is also reported.
|
Result |
CGG Repeats |
|
Normal |
< 45 |
|
Intermediate |
45-54 |
|
Premutation |
55-200 |
|
Full mutation |
>200 |
Males:
Presence of a full mutation with complete methylation is associated with mental retardation. Methylation mosaicism and/or premutation along with a full mutation has been shown to reduce the severity of mental retardation.
Females:
A premutation in a female is not associated with mental retardation. The presence of a full mutation in a female carries approximately 30% risk of mild mental retardation.
The chance that a premutation could expand to a full mutation when passed from a female carrier to her offspring is shown in the following table:
|
Premutation CGG repeats |
Risk of Expansion to Full Muatation |
|
55-59 |
4% |
|
60-69 |
5% |
|
70-79 |
31% |
|
80-89 |
58% |
|
90-99 |
80% |
|
>99 |
approx 100% |
Adult onset disease:
Fragile X-associated tremor / ataxia syndrome (FXTAS). An FMR-1 premutation may confer an adult risk for tremor and ataxia. Not all men with an FMR-1 premutation will develop FXTAS. The risk of developing FXTAS is age dependent and ranges from 17% (age 50- 59), 38% (age 60-69), 45% (age 70- 79) and 75%(age >= 80). However, it is estimated that only 20-30% of men with an FMR-1 premutation will develop the syndrome.
FMR-1 related premature ovarian failure (POF): Women with an FMR-1 premutation have an approximately 21% risk of developing POF as opposed to 1% in the general population.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
| Ordering |
Males:
Presence of a full mutation with complete methylation is associated with mental retardation. Methylation mosaicism and/or premutation along with a full mutation has been shown to reduce the severity of mental retardation.
Females:
A premutation in a female is not associated with mental retardation. The presence of a full mutation in a female carries approximately 30% risk of mild mental retardation.
The chance that a premutation could expand to a full mutation when passed from a female carrier to her offspring is shown in the following table:
|
Premutation CGG repeats |
Risk of Expansion to Full Muatation |
|
55-59 |
4% |
|
60-69 |
5% |
|
70-79 |
31% |
|
80-89 |
58% |
|
90-99 |
80% |
|
>99 |
approx 100% |
Adult onset disease:
Fragile X-associated tremor / ataxia syndrome (FXTAS). An FMR-1 premutation may confer an adult risk for tremor and ataxia. Not all men with an FMR-1 premutation will develop FXTAS. The risk of developing FXTAS is age dependent and ranges from 17% (age 50- 59), 38% (age 60-69), 45% (age 70- 79) and 75%(age >= 80). However, it is estimated that only 20-30% of men with an FMR-1 premutation will develop the syndrome.
FMR-1 related premature ovarian failure (POF): Women with an FMR-1 premutation have an approximately 21% risk of developing POF as opposed to 1% in the general population.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
| Collection |
| Processing |
| Result Interpretation |
Results are reported as "No Mutation Detected", "Pre-mutation Present" or "Full Mutation Present".
Number of CGG repeats is also reported.
|
Result |
CGG Repeats |
|
Normal |
< 45 |
|
Intermediate |
45-54 |
|
Premutation |
55-200 |
|
Full mutation |
>200 |
Males:
Presence of a full mutation with complete methylation is associated with mental retardation. Methylation mosaicism and/or premutation along with a full mutation has been shown to reduce the severity of mental retardation.
Females:
A premutation in a female is not associated with mental retardation. The presence of a full mutation in a female carries approximately 30% risk of mild mental retardation.
The chance that a premutation could expand to a full mutation when passed from a female carrier to her offspring is shown in the following table:
|
Premutation CGG repeats |
Risk of Expansion to Full Muatation |
|
55-59 |
4% |
|
60-69 |
5% |
|
70-79 |
31% |
|
80-89 |
58% |
|
90-99 |
80% |
|
>99 |
approx 100% |
Adult onset disease:
Fragile X-associated tremor / ataxia syndrome (FXTAS). An FMR-1 premutation may confer an adult risk for tremor and ataxia. Not all men with an FMR-1 premutation will develop FXTAS. The risk of developing FXTAS is age dependent and ranges from 17% (age 50- 59), 38% (age 60-69), 45% (age 70- 79) and 75%(age >= 80). However, it is estimated that only 20-30% of men with an FMR-1 premutation will develop the syndrome.
FMR-1 related premature ovarian failure (POF): Women with an FMR-1 premutation have an approximately 21% risk of developing POF as opposed to 1% in the general population.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
| Administrative |
| Complete View |
Results are reported as "No Mutation Detected", "Pre-mutation Present" or "Full Mutation Present".
Number of CGG repeats is also reported.
|
Result |
CGG Repeats |
|
Normal |
< 45 |
|
Intermediate |
45-54 |
|
Premutation |
55-200 |
|
Full mutation |
>200 |
Males:
Presence of a full mutation with complete methylation is associated with mental retardation. Methylation mosaicism and/or premutation along with a full mutation has been shown to reduce the severity of mental retardation.
Females:
A premutation in a female is not associated with mental retardation. The presence of a full mutation in a female carries approximately 30% risk of mild mental retardation.
The chance that a premutation could expand to a full mutation when passed from a female carrier to her offspring is shown in the following table:
|
Premutation CGG repeats |
Risk of Expansion to Full Muatation |
|
55-59 |
4% |
|
60-69 |
5% |
|
70-79 |
31% |
|
80-89 |
58% |
|
90-99 |
80% |
|
>99 |
approx 100% |
Adult onset disease:
Fragile X-associated tremor / ataxia syndrome (FXTAS). An FMR-1 premutation may confer an adult risk for tremor and ataxia. Not all men with an FMR-1 premutation will develop FXTAS. The risk of developing FXTAS is age dependent and ranges from 17% (age 50- 59), 38% (age 60-69), 45% (age 70- 79) and 75%(age >= 80). However, it is estimated that only 20-30% of men with an FMR-1 premutation will develop the syndrome.
FMR-1 related premature ovarian failure (POF): Women with an FMR-1 premutation have an approximately 21% risk of developing POF as opposed to 1% in the general population.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
