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Neuromuscular Disorders X-Linked Intellectual Disability ... · e inatin abut L enetics and te...
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Neuromuscular Disorders X-Linked Intellectual Disability Fragile X Tesng Chromosomal Microarray XLID 91-gene Next Generaon Sequencing Panel Suspected XLID* Diagnosis Confirmed If normal If abnormal *For paents with syndromic XLID, individual XLID gene sequencing should be ordered based on clinical presentaon. Recommended Treatment Algorithm for XLID Diagnosis About EGL Genetics EGL Genetics specializes in genetic diagnostic testing, with nearly 50 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL Genetics offers a combined 1000 molecular genetics, biochemical genetics, and cytogenetics tests under one roof and custom testing for all medically relevant genes, for domestic and international clients. Equally important to improving paent care through quality genec tesng is the contribuon EGL Genetics makes back to online database (EmVClass), featuring a variant classification search and report request interface, which facilitates rapid interactive curation and reporting of variants. X-Linked Intellectual Disability Intellectual disability is a non-progressive cognive impairment affecng 1-3% of the Western populaon. It is estimated that up to 50% of moderate-to-severe cases have genetic origins and approximately 10% are due to X-linked intellectual disability disorders (XLID). XLID have been observed in all ethnic groups, may be syndromic or non-syndromic, and more than 100 XLID syndromes have been described in the literature to date. Fragile X is the most common XLID syndrome and affects ~1 in 4000 males. Other XLID syndromes are quite rare, with only a few paents reported in the literature. Males may have moderate-to-severe intellectual disability, depending on the syndrome. Carrier females may also be affected, but typically have milder clinical symptoms. The majority of individuals with XLID are non-syndromic, with no other features to assist in diagnosis. With so many gene mutaon possibilies, it is oſten not possible to predict which X-linked gene contributed to the phenotype. For this reason, simultaneous tesng of known genes involved is advantageous and provides addional benefits to paents and families, including: • Informaon regarding recurrence risk and family planning • Guidance for physicians to determine appropriate follow-up tesng and a health maintenance plan • Cost-effecve, streamlined paent care Recommended Treatment Algorithm for XLID Diagnosis the scientific and medical communities. EGL is one of only a few clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>35,000 variants on >1700 genes) and is the only laboratory with a free Genetics
Transcript of Neuromuscular Disorders X-Linked Intellectual Disability ... · e inatin abut L enetics and te...
For more information about EGL Genetics and the nearly 1000 tests we offer: CALL WEB 470.378.2200 eglgenetics.com
Neuromuscular DisordersX-Linked Intellectual Disability
About EGL GeneticsEGL Genetics specializes in genetic diagnostic testing, with nearly 50 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL Genetics offers a combined 1000 molecular genetics, biochemical genetics, and cytogenetics tests under one roof and custom testing for all medically relevant genes, for domestic and international clients.
Equally important to improving patient care through quality genetic testing is the contribution EGL Genetics makes back to
online database (EmVClass), featuring a variant classification search and report request interface, which facilitates rapid interactive curation and reporting of variants.
X-Linked Intellectual DisabilityIntellectual disability is a non-progressive cognitive impairment affecting 1-3% of the Western population. It is estimated that up to 50% of moderate-to-severe cases have genetic origins and approximately 10% are due to X-linked intellectual disability disorders (XLID). XLID have been observed in all ethnic groups, may be syndromic or non-syndromic, and more than 100 XLID syndromes have been described in the literature to date.
Fragile X is the most common XLID syndrome and affects ~1 in 4000 males. Other XLID syndromes are quite rare, with only a few patients reported in the literature. Males may have moderate-to-severe intellectual disability, depending on the syndrome. Carrier females may also be affected, but typically have milder clinical symptoms.
The majority of individuals with XLID are non-syndromic, with no other features to assist in diagnosis. With so many gene mutation possibilities, it is often not possible to predict which X-linked gene contributed to the phenotype. For this reason, simultaneous testing of known genes involved is advantageous and provides additional benefits to patients and families, including:
• Information regarding recurrence risk and family planning• Guidance for physicians to determine appropriate follow-up testing and a health maintenance plan• Cost-effective, streamlined patient care
Fragile X Testing Chromosomal Microarray
XLID 91-gene Next Generation Sequencing Panel
Suspected XLID*
Diagnosis Confirmed
If normal If abnormal
*For patients with syndromic XLID, individual XLID genesequencing should be ordered based on clinical presentation.
X-Linked Intellectual Disability
Recommended Treatment Algorithm for XLID Diagnosis
the scientific and medical communities. EGL is one of only a few clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>35,000 variants on >1700 genes) and is the only laboratory with a free
Genetics
For more information about EGL Genetics and the nearly 1000 tests we offer: CALL WEB 470.378.2200 eglgenetics.com
Neuromuscular DisordersX-Linked Intellectual Disability
About EGL GeneticsEGL Genetics specializes in genetic diagnostic testing, with nearly 50 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL Genetics offers a combined 1000 molecular genetics, biochemical genetics, and cytogenetics tests under one roof and custom testing for all medically relevant genes, for domestic and international clients.
Equally important to improving patient care through quality genetic testing is the contribution EGL Genetics makes back to
online database (EmVClass), featuring a variant classification search and report request interface, which facilitates rapid interactive curation and reporting of variants.
X-Linked Intellectual DisabilityIntellectual disability is a non-progressive cognitive impairment affecting 1-3% of the Western population. It is estimated that up to 50% of moderate-to-severe cases have genetic origins and approximately 10% are due to X-linked intellectual disability disorders (XLID). XLID have been observed in all ethnic groups, may be syndromic or non-syndromic, and more than 100 XLID syndromes have been described in the literature to date.
Fragile X is the most common XLID syndrome and affects ~1 in 4000 males. Other XLID syndromes are quite rare, with only a few patients reported in the literature. Males may have moderate-to-severe intellectual disability, depending on the syndrome. Carrier females may also be affected, but typically have milder clinical symptoms.
The majority of individuals with XLID are non-syndromic, with no other features to assist in diagnosis. With so many gene mutation possibilities, it is often not possible to predict which X-linked gene contributed to the phenotype. For this reason, simultaneous testing of known genes involved is advantageous and provides additional benefits to patients and families, including:
• Information regarding recurrence risk and family planning• Guidance for physicians to determine appropriate follow-up testing and a health maintenance plan• Cost-effective, streamlined patient care
Fragile X Testing Chromosomal Microarray
XLID 91-gene Next Generation Sequencing Panel
Suspected XLID*
Diagnosis Confirmed
If normal If abnormal
*For patients with syndromic XLID, individual XLID genesequencing should be ordered based on clinical presentation.
X-Linked Intellectual Disability
Recommended Treatment Algorithm for XLID Diagnosis
the scientific and medical communities. EGL is one of only a few clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>35,000 variants on >1700 genes) and is the only laboratory with a free
Genetics
For more information about EGL Genetics and the nearly 1000 tests we offer: CALL WEB 470.378.2200 eglgenetics.com
Neuromuscular DisordersX-Linked Intellectual Disability
*Some genes on this panel are associated with additional phenotypes. All genes on the next generation sequencing panel may be ordered separately. Genes included on panels are subject to change.
Genes Included on XLID Panel*ACSL4 CLIC2 GK KLF8 NSDHL PRPS1 TIMM8A
AFF2 CNKSR2 GPC3 L1CAM OCRL PTCHD1 TSPAN7
AP1S2 CUL4B GRIA3 LAMP2 OFD1 RAB39B UBE2A
ARHGEF9 DCX HCCS MAOA OPHN1 RBM10 UPF3B
ARX DKC1 HCFC1 MBTPS2 OTC RPL10 ZDHHC9
ATP6AP2 DLG3 HPRT1 MECP2 PAK3 RPS6KA3 ZDHHC15
ATP7A DMD HSD17B10 MED12 PCDH19 SHROOM4 ZNF711
ATRX FANCB HUWE1 MID1 PDHA1 SLC9A6
BCOR FGD1 IDS NAA10 PGK1 SLC16A2
BRWD3 FLNA IGBP1 NDP PHF6 SMC1A
CASK FMR1 IL1RAPL1 NDUFA1 PHF8 SMS
CCDC22 FRMPD4 IQSEC2 NHS PLP1 SOX3
CDK16 FTSJ1 KDM5C NLGN3 PORCN SYN1
CDKL5 GDI1 KIAA2022 NLGN4X PQBP1 SYP
XLID Next Generation Sequencing PanelAs a first step for individuals diagnosed with XLID, EGL Genetics recommends a chromosomal microarray and testing for fragile
development of XLID.
The XLID Panel may be employed to confirm the clinical diagnosis of XLID, characterize the gene mutation, and predict the need for carrier and prenatal testing of female family members.
Test Code Test Name CPT®** Code(s)MFRAX Fragile X: CGG Repeat Analysis 81243 (x1)
MXLI1 X-linked Intellectual Disability: Sequencing Panel 81243 (x1), 81302 (x1), 81401 (x1), 81404 (x1), 81405 (x1), 81406 (x1), 81407 (x1), 81408 (x1)
DXLI1 X-linked Intellectual Disability: Deletion/DuplicationPanel
81161 (x1), 81244 (x1), 81304 (x1), 81403 (x1), 81404 (x1), 81405 (x1)
X-Linked Intellectual Disability
**CPT® is a registered trademark of the American Medical Association.
For more information about EGL and the nearly 1100 tests we offer: EMAIL
www.geneticslab.emory.eduCALL
404-778-8499
X syndrome. If those test results are normal, EGL recommends the XLID Panel to analyze 91 genes associated with the
