CPT Codes for Testing

CPT codes listed below are divided into pediatric and prenatal testing for your convenience. For information about parental or familial testing, expand the test type associated with the proband’s specimen. Please contact us if you have questions about our CPT codes or require codes for a test not listed below.

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Pediatric CPT Codes

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Cytogenetic/Molecular Cytogenetic Studies

Microarray and karyotype

Test #	Test Title	CPT Code(s)
100	Rapid microarray (CGH and SNP)	81229 x1
200	Standard karyotype	88230 x2, 88262 x1, 88291 x1
204	Karyotype for mosaicism (pediatric)	88230 x2, 88263 x1, 88291 x1
210	5-cell karyotype + microarray bundle	81229 x1, 88230 x1, 88261 x1, 88285 x01, 88291 x1

Other Studies

Test #	Test Title	CPT Code(s)
7500	Maternal cell contamination studies	81265 x1

Familial Studies

Test #	Test Title	CPT Code(s)
230	5-cell karyotype (parent or family member of proband)	88230 x1, 88261 x1, 88291 x1
330	Locus-specific FISH (parent or family member of proband)	88230 x1, 88271 x2, 88273 x2, 88291 x1
900	Parental testing (general)	Dependent upon specific testing performed.

Molecular Testing

Exome Testing

Test #	Test Title	CPT Code(s)
8910	Whole exome via NGS (Proband only)	81415 x1
8911	Whole exome via NGS (Trio with proband report only)	81415 x1, 81416 x2
8912	Whole exome via NGS (Trio with full parental reports)	81415 x1, 81416 x2
8915	Whole exome via NGS (Duo with full parental report)	81415 x1, 81416 x1

Single Gene Testing

Test #	Test Title	CPT Code(s)
8560	Known mutation evaluation	Dependent upon testing ordered
8835	Single gene sequencing and deletion/duplication analysis	Dependent upon testing ordered

Phenotype-Based Panels

Test #	Test Title	CPT Code(s)
8230	Congenital hypotonia panel	81331 x1, 81400 x1, 81404 x1
8280	Custom NGS panel	Dependent upon testing ordered

Syndrome-Based Testing

Test #	Test Title	CPT Code(s)
8115	Beckwith-Wiedemann/Russell-Silver syndrome	81401 x1
8380	Fragile X CGG repeat analysis	81243 x1
8381	Fragile X CGG repeat analysis for buccal specimens	81243 x1
8750	Prader-Willi/Angelman syndrome methylation testing	81331 x1

Additional Testing/Services

Test #	Test Title	CPT Code(s)
910	Secondary specimen as requested by Allele Diagnostics	N/A. A secondary sample for testing already ordered will typically not be associated with a separate bill.
920	Other testing (specify below)	Dependent upon testing ordered
950	Stabilize specimen & hold	See test description section for discussion on fees.
975	Fibroblast culture	88233 x1

Prenatal CPT Codes

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Cytogenetic/Molecular Cytogenetic Studies

Microarray and karyotype

Test #	Test Title	CPT Code(s)
110	High-Resolution rapid microarray (CGH and SNP)	81229 x1, 88233 x1 (POC), 88235 x1 (amnio/CVS)
111	Targeted rapid microarray with backbone (CGH and SNP)	81229 x1, 88233 x1 (POC), 88235 x1 (amnio/CVS)
201	Standard karyotype for amnio/chorionic villi	88235 x1, 88267 x1 (CVS), 88269 x1 (Amniotic Fluid), 88280 x1, 88291 x1
202	Standard karyotype for POC/stillbirth/demise	88233 x1 (POC), 88262 x1, 88280 x1, 88291 x1

Other Studies

Test #	Test Title	CPT Code(s)
7025	AFP with reflex to AChE	82013 (if reflexed), 82106 x1
7500	Maternal cell contamination studies	81265 x1

Familial Studies

Test #	Test Title	CPT Code(s)
230	5-cell karyotype (parent or family member of proband)	88230 x1, 88261 x1, 88291 x1
330	Locus-specific FISH (parent or family member of proband)	88230 x1, 88271 x2, 88273 x2, 88291 x1
900	Parental testing (general)	Dependent upon specific testing performed.

Additional Testing/Services

Test #	Test Title	CPT Code(s)
920	Other testing (specify below)	Dependent upon testing ordered