CPT Codes for Genetic Testing for Autism; Autism Spectrum Disorders; Intellectual Disability

AUTISM; AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY

Intellectual Disability/ Developmental Delay

□ Panel 1 (CPT Codes)
□ 6.0 SNP microarray (81229)
□ High resolution chromosomes (88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1))- for peripheral blood sample
□ Fragile X (81243)

□ Panel 2 (CPT Codes)
□ IL1RAPL1 (81405, 81403)
□ SYNGAP1 (81406)
□ XLMR Tier A (NLGN3, NLGN4, MECP2, CDKL5) (81405, 81404, 81302, 81406,81304, 81405)
□ XLMR Tier 1 (DLG3, FTSJ1, JARID1C, PHF6, ZNF41) (81406, 81406, 81407, 81405, 81404)
□ XLMR Tier 2 (GDI1, FACL4, OPHN1, PQBP1, TM4SF2) (81406, 81406, 81406, 81405, 81405, 81405)
□ XLMR Tier 3 (ATRX, FGD1, MID1, PLP1, RSK2, SLC6A8) (81407, 81406, 81405, 81405, 81406, 81406, 81406, 81405, 81405, 81404, 81405, 81404)
□ XLMR Tier 4 (AGTR2, ARHGEF6, MED12, PAK3, SLC16A2) (81404, 81406, 81407, 81406, 81405, 81404)

Intellectual Disability + Autism Spectrum Disorder

□ Panel 1 (CPT Codes)
□ 6.0 SNP microarray (81229)
□ High resolution chromosomes (88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1))- for peripheral blood sample
□ Fragile X (81243)

□ Panel 2 (CPT Codes)
□ Angelman/ Angleman-like syndromes (Angelman methylation, UBE3A, SLC9A6, TCF4) (81331, 81406, 81406, 81406, 81405, 81405, 81404)
□ XLMR Tier A (NLGN3, NLGN4, MECP2, CDKL5) (81405, 81404, 81302, 81406,81304, 81405)

Intellectual Disability + Macrocephaly (OFC >2SD) (CPT CODES)

□ 6.0 SNP microarray (81229)
□ High resolution chromosomes (88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1))- for peripheral blood sample
□ Fragile X (81243)
□ PTEN (81321, 81323, 81403)
□ RAB39B (81404)

Intellectual Disability + Epilepsy

□ Panel 1 (CPT Codes)
□ 6.0 SNP microarray (81229)
□ High resolution chromosomes (88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1))- for peripheral blood sample
□ ARX (81404, 81405)    
□ SCN1A (81407, 81479)
□ RAB39B (81404)
□ Epilepsy Panel 1 (SLC9A6, PCDH19 (females only), MECP2, CDKL5) (81302, 81406, 81406, 81406, 81304, 81405, 81404)
□ Epilepsy Panel 2 (ATP6AP2, SLC6A8, OPHN1, SYN1) (81405, 81406, 81406, 81406, 81403, 81404)

□  Panel 2
□ SYNGAP 1 (81406)
□ MELAS (81401)
□ Angelman/ Angleman-like syndromes (Angelman methylation, UBE3A, SLC9A6, TCF4) (81331, 81406, 81406, 81406, 81405, 81405, 81404)

Autism Spectrum Disorder

□ Panel 1
□ 6.0 SNP microarray (81229)
□ High resolution chromosomes (88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1))- for peripheral blood sample
□ Fragile X (81243)
□ MECP2 (81302, 81304)
□ NLGN3, NLGN4 (81405, 81404, 81405)

□ Panel 2
□ SYNGAP1 (81406)
□ PTCHD1 (81404, 81403)
□ GDI1 (81406, 81403)

Autism Spectrum Disorder + Macrocephaly (OFC >2SD)

□ Panel 1
□ 6.0 SNP microarray (81229)
□ High resolution chromosomes (88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1))- for peripheral blood sample
□ Fragile X (81243)
□ PTEN (81321, 81323, 81403)

□ Panel 2
□ NSD1 (Sotos syndrome) (81406, 81405)
□ RAB39B (81404)

Intellectual Disability (Nonverbal) OR Autism Spectrum Disorder + Microcephaly (OFC <2SD)

□ 6.0 SNP microarray (81229)
□ High resolution chromosomes (88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1))- for peripheral blood sample
□ Angelman/ Angleman-like syndrome panel (Angelman methylation, UBE3A, SLC9A6, TCF4, ZEB2) (81331, 81406, 81406, 81406, 81405, 81405, 81404)
□ Rett (Classic, Atypical, Congenital variants)/ Rett-like syndromes panel (MECP2, CDKL5, FOXG1, TCF4) (81302, 81304, 81406, 81405, 81404, 81402, 81406, 81405)