Genes Tested: ABCD1, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, XNP, XH2, BCOR, BRWD3, CASK, CMTX1, CUL4B, DCX, DKC1, DLG3, DMD, ELK1, FACL4, ACSL4, FANCB, FGD1, FLNA, FLN1, FMR1, FMR2, AFF2, FRAXE, FTSJ1, GDI1, GK, GPC3, GRIA3, HADH2, HSD17B10, HCCS, HPRT, HUWE1, IDS, IKBKG, NEMO, IL1RAPL1, JARID1C, KDMSC, SMCX, KIAA1202, SHROOM4, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, IAP, MAOA, MECP2, MED12, HOPA, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4, NXF5, OCRL1, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK, PHF6, PHF8, PLP, PLP1, PORCN, PQBP1, PRPS1, RPL10, RPS6KA3, RSK2, SLC16A2, MCT8, SLC38A5, SLC6A8, SLC9A6, SMC1A, SMC1L1, SMS, SOX3, SRPX2, STK9, CDKL5, SYN1, SYP, TIMM8A, TM4SF2, TSPAN7, UBE2A, UPF3B, VCX3A, ZDHHC15, ZDHHC9, ZNF261, ZMYM3, ZNF41, ZNF674, ZNF711, ZNF81
Tests Offered: Ambry XLMR NextGen SuperPANEL™, Ambry XLMR Array Plus™, Chromosome Analysis, Fragile X, FRAXE (FMR2)
This comprehensive set of tests spans all levels of genetic resolution, from genome-wide scan through base-pair specific mutation analysis, to provide the best detection possible. Copy number variants, gross deletions and duplications and sequence variants are all significant contributors to intellectual disability.
The XLMR Testing options can be customized based in the patient’s presentation, gender and results of prior testing. Care providers may order any combination of tests to run concurrently or sequentially. Ambry Genetics makes the process seamless by automatically coordinating test reporting, scheduling, billing, and communication with the ordering lab.
Tests include:
Ambry XLMR NextGen SuperPANEL™
- • Full sequencing of 81 XLMR genes by next generation technology
- • Easy-to-read comprehensive report and interpretation
- • Mutation-specific analysis for family members is available
Ambry XLMR Array Plus™
- • Full-genome chromosomal microarray with 150K backbone with an average resolution of 13K
- • Enhanced coverage of the X chromosome
- • Exon-level targeting of the known 90+ XLMR genes
- • Over 180,000 probes total
Additional Tests
- • Fragile X DNA Analysis with Southern blot and PCR
- • FRAXE (FMR2) DNA Analysis
- • MECP2 AMPLIFIED™ for detection of Rett Syndrome in females
- • MECP2 Del/Dup for detection of gross gene duplications in males
- • Sequence of individual XLMR genes
Specimen Requirements
- • 5-10 cc whole blood in EDTA or ACDA
- • For XLMR Array Plus™, add 5 cc in sodium heparin
- • Maximum 15 cc for all tests
- • Adhere the airbill to the Clinical Pak and ship
