Genetic Testing for Developmental Disorders CPT Codes

Cognitive Impairment/ Developmental Delay

□ Panel 1 (High resolution chromosome, 6.0 SNP microarray, Fragile X)

PANEL 1 (HIGH RESOLUTION CHROMOSOMES, SNP MICROARRAY, FRAGILE X)
NEW UMBRELLA CODE CPT CODE
81229, 81243. 88262, 88289, 88291, 88230, 88280, 88285 88230(1); 88262(1); 88280(1); 88285(1); 88289(1); 88291(1); 83891(1); 83892(3); 83898; 83898-91(2); 88386(1)
HIGH RESOLUTION CHROMOSOMES
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291 88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1)
SNP MICROARRAY
NEW UMBRELLA CODE CPT CODE
81229 83891(1); 83892(3); 83898(2); 88386(1)
FRAGILE X
NEW UMBRELLA CODE CPT CODE
81243 83891(1);83894(1); 83898 (1); 83912-26(1)

□ Panel 2 (SYNGAP1, Tier A, XLID Tier 1, XLID Tier 2, XLID Tier 3, XLID Tier 4)

PANEL 2
NEW UMBRELLA CODE CPT CODE
81406, 81405, 81404, 81302, 81406,81304, 81405, 81406, 81406, 81407, 81405, 81404, 81406, 81406, 81406, 81405, 81405, 81405, 81407, 81406, 81405, 81405, 81406, 81406, 81406, 81405, 81405, 81404, 81405, 81404, 81404, 81406, 81407, 81406, 81405, 81404 83891(1); 83892(1),83892-91(115); 83894(1),83894-91(73); 83898(1),83898-91(437); 83904(1),83904-91(786); 83909(1),83909-91(306); 83900(1); 83901(1),83901-91(26); 83908(1),83908-91(475);83912-26(1)
SYNGAP1
NEW UMBRELLA CODE CPT CODE
81406 83891(1);83894(1);83898(20);83892(20);83904(40);83909(40);83912-26(1)
XLID Tier A (NLGN3, NLGN4, MECP2, CDKL5)
NEW UMBRELLA CODE CPT CODE
81405, 81404, 81302, 81406,81304, 81405 83891(1); 83894(1),83894-91(43); 83898(1),83898-91(86); 83904(1),83904-91(84); 83909(1),83909-91(80); 83900(1); 83901(1),83901-91(26); 83912-26(1)
XLID Tier 1 (DLG3, FTSJ1, JARIDIC, PHF6, ZNF41)
NEW UMBRELLA CODE CPT CODE
81406, 81406, 81407, 81405, 81404 83891(1); 83894(1), 83894-91(4); 83898, 83898-91(72); 83892; 83904, 83904-91(145); 83908(1), 83908-91(145);83912-26(1)
XLID Tier 2 (GD11, FACL4, OPHN1, PQBP1, TM4SF2)
NEW UMBRELLA CODE CPT CODE
81406, 81406, 81406, 81405, 81405, 81405 83891(1); 83894(1), 83894-91(4);83898(1), 83898-91(59);83892(1);83904, 83904-91(119);83908, 83908-91(119);83912-26(1)
XLID Tier 3 (ATRX, FDG1, MID1, PLO 1, RSK2, SCL6A8)
NEW UMBRELLA CODE CPT CODE
81407, 81406, 81405, 81405, 81406, 81406, 81406, 81405, 81405, 81404, 81405, 81404 83891(1);83894, 83894-91(10);83898, 83898-91(104);83892(1);83904, 83904-91(209);83908, 83908-91(209);83912-26(1)
XLID Tier 4 (AFTR2, ARHGEF6, MED12, PAK3, SLC16A2
NEW UMBRELLA CODE CPT CODE
81404, 81406, 81407, 81406, 81405, 81404 83891(1);83894; 83894-91(7);83898; 83898-91(92);83892; 83892-91(92);83904; 83904-91(185);83909; 83909-91(185);83912-26(1)

Cognitive Impairment + Autism Spectrum Disorder

□ Panel 1 (High resolution chromosomes, 6.0 SNP microarray, Fragile X)

PANEL 1
NEW UMBRELLA CODE CPT CODE
88262, 88289, 88291, 81229, 81243, 88230, 88280, 88285 88230(1); 88262(1); 88280(1); 88285(1); 88289(1); 88291(1); 83891(1); 83892(3); 83898; 83898-91(2); 88386(1)
HIGH RESOLUTION CHROMOSOMES
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291 88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1)
SNP MICROARRAY
NEW UMBRELLA CODE CPT CODE
81229 83891(1); 83892(3); 83898(2); 88386(1)
FRAGILE X
NEW UMBRELLA CODE CPT CODE
81243 83891(1);83894(1); 83898 (1); 83912-26(1)

 

□ Panel 2 (Angelman/ Angelman-like syndromes; XLID Tier A)

PANEL 2
NEW UMBRELLA CODE CPT CODE
83891(1); 83892(1),83892-91(49); 83894(1),83894-91(46); 83898(1),83898-91(136); 83904(1),83904-91(182); 83909(1),83909-91(180); 83900(1); 83901(1),83901-91(26); 83896(86); 83912-26(1)
ANGELMAN/ ANGELMAN-LIKE SYNDROMES (ANGELMAN METHYLATION, UBE3A, SLC9A6, TCF4)
NEW UMBRELLA CODE CPT CODE
81331, 81406, 81406, 81406, 81405, 81405, 81404 83891(1); 83892,83892-91(49); 83894,83894-91(2); 83898,83898-91(49); 83904, 83904-91(97); 83909,83909-91(99); 83896(86); 83912-26(1)
XLID TIER A (NLGN3, NLGN4, MECP2, CDKL5)
NEW UMBRELLA CODE CPT CODE
81405, 81404, 81302, 81406, 81304, 81405 83891(1); 83894(1),83894-91(43); 83898(1),83898-91(86); 83904(1),83904-91(84); 83909(1),83909-91(80); 83900(1); 83901(1),83901-91(26); 83912-26(1)

Cognitive Impairment + Macrocephaly (OFC >2SD)
□ Panel (High resolution chromosomes, 6.0 SNP microarray, Fragile X, PTEN, RAB39B)

PANEL
NEW UMBRELLA CODE CPT CODE
81229, 81243, 81321, 81323, 81403, 81404, 88262, 88289, 88291, 88230, 88280, 88285 88230(1); 88262(1); 88280(1); 88285(1); 88289(1); 88291(1); 83891(1); 83892(1),83892-91(14); 83898(1),83898-91(14); 88386(1)
HIGH RESOLUTION CHROMOSOMES
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291 88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1)
SNP MICROARRAY
NEW UMBRELLA CODE CPT CODE
81229 83891(1); 83892(3); 83898(2); 88386(1)
FRAGILE X
NEW UMBRELLA CODE CPT CODE
81243 83891(1);83894(1); 83898 (1); 83912-26(1)
PTEN
NEW UMBRELLA CODE CPT CODE
81321, 81323, 81403 83891(1); 83892(9); 83894(1); 83898(9); 83904(18); 83909(18); 83912-26(1)
RAB39B
NEW UMBRELLA CODE CPT CODE
81404 83891(1);83894(1);83898(3);83892(3);83904(6);83909(6);83912-26(1)

Cognitive Impairment + Epilepsy
□ Panel 1 (High resolution chromosomes, 6.0 SNP microarray, RAB39B, Epilepsy Panel 1, Epilepsy Panel 2)

PANEL
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291, 81229, 81404, 81406, 81406, 81404, 81302, 81406, 81304, 81405, 81405, 81406, 81406, 81406, 81403, 81404 88230(1); 88262(1); 88280(1); 88285(1); 88289(1); 88291(1); 83891(1); 83892(1),83892-91(89); 83898(1),83898-91(165); 88386(1)
HIGH RESOLUTION CHROMOSOME STUDY
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291 88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1)
SNP MICROARRAY
NEW UMBRELLA CODE CPT CODE
81229 83891(1); 83892(3); 83898(2); 88386(1)
RAB39B
NEW UMBRELLA CODE CPT CODE
81404 83891(1);83894(1);83898(3);83892(3);83904(6);83909(6);83912-26(1)
EPILEPSY PANEL 1 (SLC9A6, PCDHI9 (FEMALES ONLY), MECP2, CDKL5)
NEW UMBRELLA CODE CPT CODE
81406, 81406, 81404, 81302, 81406, 81304, 81405 83891(1);83894, 83894-91(34);83898, 83898-91(98);83892, 83892-91(22); 83904, 83904-91(94);83909, 83909-91(90); 83900(1); 83901(27);83912-26(1)
EPILEPSY PANEL 2 (ATP6AP2, SLC6A8, OPHN1, SYN1)
NEW UMBRELLA CODE CPT CODE
81405, 81406, 81406, 81406, 81403, 81404 83891(1);83894, 83894-91(6);83898, 83898-91(60);83892, 83892-91(60);83904, 83904-91(121);83909, 83909-91(121);83912-26(1)

□ Panel 2 (SYNGAP 1, MELAS, Angelman/ Angelman-like syndromes)

PANEL 2
NEW UMBRELLA CODE CPT CODE
81401, 81331, 81406, 81406, 81406, 81405, 81405, 81404 83891(1); 83892,83892-91(50); 83894,83894-91(3); 83898,83898-91(50); 83904, 83904-91(97); 83909,83909-91(99); 83896(86); 83912-26(1)
SYNGAP1
NEW UMBRELLA CODE CPT CODE
81406 83891(1);83894(1);83898(20);83892(20);83904(40);83909(40);83912-26(1)
MELAS
NEW UMBRELLA CODE CPT CODE
81401 83891(1);83892(1);83894(1);83898(1);83912-26(1)
ANGELMAN/ ANGELMAN-LIKE SYNDROMES (ANGELMAN METHYLATION, UBE3A, SLC9A6, TCF4)
NEW UMBRELLA CODE CPT CODE
81331, 81406, 81406, 81406, 81405, 81405, 81404 83891(1); 83892,83892-91(49); 83894,83894-91(2); 83898,83898-91(49); 83904, 83904-91(97); 83909,83909-91(99); 83896(86); 83912-26(1)

Autism Spectrum Disorder
□ Panel 1(High resolution chromosomes, 6.0 SNP microarray, Fragile X, MECP2, NLGN3, NLGN4)

PANEL
NEW UMBRELLA CODE CPT CODE
88230, 88280, 88285, 88262, 88289, 88291, 81229, 81243, 81302, 81304, 81405, 81404 88230(1); 88262(1); 88280(1); 88285(1); 88289(1); 88291(1); 83891(1); 83892(3); 83898, 83898-91(13); 83901(27); 88386(1)
HIGH RESOLUTION CHROMOSOME STUDY
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291 88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1)
SNP MICROARRAY
NEW UMBRELLA CODE CPT CODE
81229 83891(1); 83892(3); 83898(2); 88386(1)
FRAGILE X
NEW UMBRELLA CODE CPT CODE
81243 83891(1);83894(1); 83898 (1); 83912-26(1)
MECP2
NEW UMBRELLA CODE CPT CODE
81302, 81304 83891(1); 83894(11); 83898(10); 83900(1); 83901(27); 83904(5); 83909(1); 83912-26(1)
NLGN3 & NLGN4X
NEW UMBRELLA CODE CPT CODE
81302, 81304 83891, 83894, 83894-91(10); 83898, 83898-91(10); 83904, 83904-91(35); 83909, 83909-91(35); 83912-26(1)

□ Panel 2 (SYNGAP1, PTCHD1, GDI1)

SYNGAP1
NEW UMBRELLA CODE CPT CODE
81406 83891(1);83894(1);83898(20);83892(20);83904(40);83909(40);83912-26(1)
PTCHD1
NEW UMBRELLA CODE CPT CODE
81404, 81403 83891(1);83894(1);83896(20);83898,83898-91(14);83892(14);83904(28);83909,83909-91(28);83912-26(1);83914(1)
GDI1
NEW UMBRELLA CODE CPT CODE
81406, 81403 83891(1);83892(11);83894(1);83898(11);83904(22);83909(22);83912-26(1)

Autism Spectrum Disorder + Macrocephaly (OFC >2SD)
□ Panel 1 (High resolution chromosomes, 6.0 SNP microarray, Fragile X, PTEN)

PANEL
NEW UMBRELLA CODE CPT CODE
88230, 88280, 88285, 88262, 88289, 88291, 81321, 81323, 81229, 81243, 81403 88230(1); 88262(1); 88280(1); 88285(1); 88289(1); 88291(1); 83891(1); 83892(1),83892-91(11); 83898(1),83898-91(11); 88386(1
HIGH RESOLUTION CHROMOSOMES
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291 88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1)
SNP MICROARRAY
NEW UMBRELLA CODE CPT CODE
81229 83891(1); 83892(3); 83898(2); 88386(1)
FRAGILE X
NEW UMBRELLA CODE CPT CODE
81243 83891(1);83894(1); 83898 (1); 83912-26(1)
PTEN
NEW UMBRELLA CODE CPT CODE
81321, 81323, 81403 83891(1); 83892(9); 83894(1); 83898(9); 83904(18); 83909(18); 83912-26(1)

□ Panel 2 (NSD1, RAB39B)

PANEL
NEW UMBRELLA CODE CPT CODE
81406, 81405, 81404 83891(1); 83892(1),83892-91(39); 83894(1),83894-91(2); 83898(1),83898-91(39); 83904(1),83904-91(79); 83909(1),83909-91(79); 83912-26(1)
NSD1
NEW UMBRELLA CODE CPT CODE
81406, 81405 83891(1);83892(37);83894(2);83898(37);83904(74);83909(74);83912-26(1)
RAB39B
NEW UMBRELLA CODE CPT CODE
81404 83891(1);83894(1);83898(3);83892(3);83904(6);83909(6);83912-26(1)

Cognitive Impairment (Nonverbal) OR Autism Spectrum Disorder + Microcephaly (OFC <2SD)
□ Panel [High resolution chromosomes, 6.0 SNP microarray, Angelman/ Angelman-like syndrome panel, Rett (Classic, Atypical, Congenital variants)/ Rett-like syndromes panel]

PANEL
NEW UMBRELLA CODE CPT CODE
88262, 88289, 88291, 81229, 81302, 81304, 88230,  88280, 88285,81331, 81406, 81406, 81406, 81405, 81405, 81404, 81302, 81304, 81406, 81405, 81404, 81402 88230(1); 88262(1); 88280(1); 88285(1); 88289(1); 88291(1); 83891(1); 83892,83892-91(74); 83898,83898-91(149); 83900(1); 83901(27); 88386(1)
HIGH RESOLUTION CHROMOSOMES
NEW UMBRELLA CODE CPT CODE
88230, 88262, 88280, 88285, 88289, 88291 88230(1);88262(1);88280(1);88285(1); 88289(1); 88291(1)
SNP MICROARRAY
NEW UMBRELLA CODE CPT CODE
81229 83891(1); 83892(3); 83898(2); 88386(1)
ANGELMAN/ ANGELMAN-LIKE SYNDROMES (ANGELMAN METHYLATION, UBE3A, SLC9A6, TCF4)
NEW UMBRELLA CODE CPT CODE
81331, 81406, 81406, 81406, 81405, 81405, 81404 83891(1); 83892,83892-91(49); 83894,83894-91(2); 83898,83898-91(49); 83904, 83904-91(97); 83909,83909-91(99); 83896(86); 83912-26(1)
RETT (CLASSIC, ATYPICAL, CONGENITAL VARIENTS)/ RETT-LIKE SYNDROMES PANEL (MECP2, CDKL5, FOXG1, TCF4)
NEW UMBRELLA CODE CPT CODE
81302, 81304, 81406, 81405, 81404, 81402, 81406, 81405 83891(1); 83894,83894-91(34); 83898,83898-91(97); 83892,83892-91(21); 83900(1); 83901(27); 83904,83904-91(92); 83909,83909-91(88); 83912-26(1)
MECP2 (SEQUENCING AND MLPA)
NEW UMBRELLA CODE CPT CODE
81302, 81304 83891(1); 83894(11); 83898(10); 83900(1); 83901(27); 83904(5); 83909(1); 83912-26(1)
CDKL5
NEW UMBRELLA CODE CPT CODE
81406, 81405 83891(1);83894(22);83898(66);83904(44);83909(44);83912-26(1)
FOXG1
NEW UMBRELLA CODE CPT CODE
81404, 81402 83891(1);83894(1);83898(4);83892(4);83904(8);83909(8);83912-26(1)
TCF4
NEW UMBRELLA CODE CPT CODE
81406, 81405 83891(1);83894(1);83898(18);83892(18);83904(36);83909(36);83912-26(1)
ZEB2
NEW UMBRELLA CODE CPT CODE
81405, 81404 83891(1);83896(37);83894(1);83898(1),83898-91(16); 83892(16); 83904(32); 83909(1),83909-91(32); 83912-26(1); 83914(1)
SNP CHIP and Rett Panel when Blood Chrom or High Res and FX were previously billed
NEW UMBRELLA CODE CPT CODE
81302, 81304, 81406, 81405, 81404, 81406, 81405, 81402, 81229 83898,83898-91(99); 83892,83892-91(24); 83900(1); 83901(27); 88386(1)