CPT Codes

Ambry Genetics' interpretation of CPT Coding requirements is based on AMA Guidelines. The codes (in single units) are required to obtain insurance authorization. Most codes are billed in multiple units. CPT Codes are provided only as a guide to assist you in billing. CPT coding is the sole responsibility of the billing party.
ABCA3-Related Surfactant Dysfunction
Test Code Technique CPT Codes
1160 SFTPB Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x20, 83909x20, 83912x1
1180 SFTPC Gene Sequence Analysis 83891x1, 83894x6, 83898x5, 83904x11, 83909x11, 83912x1
8100 Surfactant Panel (ABCA3, SFTPB, SFTPC) 83891x1, 83894x46, 83898x45, 83904x71, 83909x71, 83912x3

 

Alagille AMPLIFIED™
Test Code Technique CPT Codes
1640 JAG1 Gene Sequence Analysis and Deletion / Duplication 83891x1, 83894x26, 83898x25, 83904x48, 83900x1, 83901x24, 83909x48, 83912x2
1641 JAG1 Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x24, 83909x1, 83912x1
1643 JAG1 Gene Sequence Analysis 83891x1, 83894x26, 83898x25, 83904x48, 83909x48, 83912x1

 

Alpha-1-Antitrypsin Deficiency
Test Code Technique CPT Codes
1140 SERPINA1 Gene Sequence Analysis 83891x1, 83894x5, 83898x4, 83904x10, 83909x10, 83912x1

 

Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray)
Test Code Technique CPT Codes
3002 CMA: 180K Oligo Array 83891x1, 83892x2, 83894x1, 83912x1, 88385x1, 88386x3    

 

AmbrySCREEN Version 2™
Test Code Technique CPT Codes
8640 AmbrySCREEN 83891x1, 83894x1, 83898x28, 83904x1, 83909x2, 83912x1

 

Aminoglycoside-Related Hearing Loss
Test Code Technique CPT Codes
1320 MT-RNR1 Gene Sequence Analysis 83891x1, 83894x4, 83898x3, 83904x6, 83909x6, 83912x1

 

Amyotrophic Lateral Sclerosis (ALS)
Test Code Technique CPT Codes
8620 ALS SOD1, Reflex to ANG, FIG4, FUS, TARDBP 83891x1, 83894x47, 83898x46, 83904x80, 83909x80, 83912x5 
8642 ALS SOD1, Concurrent to ANG, FIG4, FUS, TARDBP 83891x1, 83894x47, 83898x46, 83904x80, 83909x80, 83912x5
8622 ALS SOD1 Gene Sequence Analysis 83891x1, 83894x6, 83898x5, 83904x10, 83909x10, 83912x1
8624 ALS Step 2: 4 Genes 83891x1, 83894x42, 83898x41, 83904x75, 83909x75, 83912x4

 

Angelman Syndrome
Test Code Technique CPT Codes
2400 UBE3A Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x23, 83909x23, 83912x1
2420 Angelman Syndrome, X-Linked SLC9A6    83891x1, 83894x16, 83898x15, 83904x28, 83909x28, 83912x1
8520 Angelman Syndrome SNRPN and UBE3A 83891x1, 83892x1, 83894x12, 83898x11, 83904x26, 83909x26, 83912x2
2440 SNRPN Methylation 83891x1, 83892x1, 83894x2, 83898x1, 83904x3, 83909x3, 83912x1

 

Angelman-like Syndrome, X-Linked
Test Code Technique CPT Codes
4260 SLC16A2 Gene Sequence Analysis 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1

 

APC Amplified
Test Code Technique CPT Codes
3040 APC Gene Sequence Analysis and Deletion / Duplication     83891x1, 83894x25, 83898x25, 83900x1, 83901x24, 83904x26, 83909x26, 83912x2    
3044 APC Gene Sequence Analysis 83891x1, 83894x25, 83898x25, 83904x30, 83909x30, 83912x1
3046 APC Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x24, 83909x1, 83912x1
4660 MUTYH Gene Sequence Analysis     83891x1, 83894x11, 83898x10, 83904x12, 83909x12, 83912x1    
8720

MUTYH Associated Polyposis
(MUTYH-2 Mutations Reflex Option to Sequence if Only 1 Mutation Found) 

 83891x1, 83894x3, 83898x2, 83904x4, 83909x4, 83912x1
8722

FAP PLUS Reflex Option
(APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH) 

 83891x1, 83894x25, 83898x25, 83900x1, 83901x24, 83904x26, 83909x26, 83912x2    
8726

FAP PLUS Concurrent
(APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH 2 Mutations) 

 83891x1, 83894x25, 83898x25, 83900x1, 83901x24, 83904x26, 83909x26, 83912x2    

 

ARX-Related XLMR
Test Code Technique CPT Codes
3140 ARX Gene Srequence Analysis 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1

 

Ashkenazi Jewish FlexPanel™
Test Code Technique CPT Codes
1800 Ashkenazi Jewish FlexPanel (11 conditions) 83891x1, 83894x1, 83898x30, 83904x30, 83909x30, 83912x1
1808 Ashkenazi Jewish FlexPanel (16 conditions) 83891x1, 83894x1, 83898x43, 83904x43, 83909x43, 83912x1
1804 Ashkenazi Jewish FlexPanel (Per Gene Tested) 83891x1, 83894x1, 83898x3, 83904x2, 83909x2, 83912x1

 

ATRX-Related XLMR
Test Code Technique CPT Codes
4400 ATRX Gene Sequence Analysis 83891x1, 83894x39, 83898x38, 83904x76, 83909x76, 83912x1

 

Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia)
Test Code Technique CPT Codes
1040  HBB Gene Sequence Analysis 83891x1, 83894x3, 83898x2, 83904x8, 83909x8, 83912x1

 

Canavan AMPLIFIED
Test Code Technique CPT Codes
1220 ASPA Gene Sequence Reflex Option Analysis and Deletion / Duplication     83891x1, 83894x7, 83898x6, 83904x12, 83900x1, 83901x4, 83909x13, 83912x2    
1226 ASPA Gene Sequence Concurrent Analysis and Deletion / Duplication     83891x1, 83894x7, 83898x6, 83904x12, 83900x1, 83901x4, 83909x13, 83912x2    

 

CASK-Related XLMR
Test Code Technique CPT Codes
3180 CASK Gene Sequence Analysis 83891x1, 83894x26, 83898x27, 83904x52, 83909x52, 83912x1

 

CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome)
Test Code Technique CPT Codes
2040 CDKL5 Gene Sequence Analysis 83891x1, 83894x23, 83898x22, 83904x43, 83909x43, 83912x1

 

Cerebral Cavernous Malformations (CCM)
Test Code Technique CPT Codes
5320 CCM2 Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x20, 83909x20, 83912x1
5324 CCM2 Deletion / Duplication 83891x1, 83894x1, 83900x1, 83901x10, 83909x1, 83912x1
5340 KRIT1 Gene Sequence Analysis 83891x1, 83894x16, 83898x15, 83904x30, 83909x30, 83912x1
5344 KRIT1 Deletion / Duplication 83891x1, 83894x1, 83900x1, 83901x17, 83909x1, 83912x1
5360 PDCD10 Gene Sequence Analysis 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1
5364 PDCD10 Deletion / Duplication 83891x1, 83894x1, 83900x1, 83901x8, 83909x1, 83912x1
5368 Comprehensive CCM: Step 1 KRIT1 Gene Sequence,
Step 2 CCM2, PDCD10 Sequence and Deletion / Duplication for All 3 Genes (Reflex)		 83891x1, 83894x35, 83898x31, 83900x1, 83901x39, 83904x62, 83909x63, 83912x4
5370 Comprehensive CCM: Step 1 KRIT1 Gene Sequence,
Step 2 CCM2, PDCD10 Sequence and Deletion / Duplication for All 3 Genes (Concurrent)		 83891x1, 83894x35, 83898x31, 83900x1, 83901x39, 83904x62, 83909x63, 83912x4
5366 KRIT1, CCM2, PDCD10 Deletion / Duplication 83891x1, 83894x1, 83900x1, 83901x39, 83909x1, 83912x1

 

CHARGE Syndrome
Test Code Technique CPT Codes
2380 CHD7 Gene Sequence Analysis     83891x1, 83894x39, 83898x38, 83904x60, 83909x45, 83912x1    

 

CHEK2-Related Cancer
Test Code Technique CPT Codes
4980 CHEK2-Related Cancer Gene Sequence 83891x1, 83894x17, 83898x16, 83904x28, 83909x28, 83912x1    
4982 CHEK2-Related c.1100delC Founder Mutation     83891x1, 83894x3, 83898x2, 83904x2, 83909x2, 99000x1, 83912x1    
4984  CHEK2-Related Sequence With Exon 9 - 10 Deletion     83891x1, 83894x4, 83898x3, 83912x1, 99000x1    

 

Congenital Central Hypoventilation Syndrome
Test Code Technique CPT Codes
1580 PHOX2B Gene Sequence Analysis     83891x1, 83894x5, 83898x4, 83904x8, 83909x8, 83912x1    

 

Congenital Hyperinsulinism, KCNJ11-Related Diabetes
Test Code Technique CPT Codes
1364 KCNJ11 Gene Sequence Analysis 83891x1, 83894x5, 83898x4, 83904x8, 83909x8, 83912x1      

 

CUL4B-Related XLMR
Test Code Technique CPT Codes
3220 CUL4B Gene Sequence Analysis 83891x1, 83894x22, 83898x21, 83904x42, 83909x42, 83912x1

 

Cystic Fibrosis (including 508 FIRST, CF AMPLIFIED and CF 102)
Test Code Technique CPT Codes
1000 CFTR Gene Sequence Analysis 83891x1, 83894x2, 83898x50, 83903x29, 83904x1, 83909x1, 83912x1
1002 508 FIRST Reflex to CFTR Sequence Analysis and Deletion / Duplication     83891x1, 83894x2, 83898x60, 83900x1, 83901x27, 83903x29, 83904x1, 83909x1, 83912x2    
1004 CFTR Deletion / Duplication Analysis     83891x1, 83894x1, 83900x1, 83901x27, 83909x1, 83912x1
1006 CFTR Sequence Analysis Reflex Option to Deletion / Duplication     83891x1, 83894x2, 83898x60, 83900x1, 83901x27, 83903x29, 83904x1, 83909x1, 83912x2    
1007 CFTR Sequence Analysis Concurrent to Deletion / Duplication     83891x1, 83894x2, 83898x60, 83900x1, 83901x27, 83903x29, 83904x1, 83909x1, 83912x2    
1010 CF TG Repeat (CFTR) 83891x1, 83894x2, 83898x1, 83904x2, 83909x2, 83912x1 
1012 508 ONLYTM (CFTR) 83891x1, 83892x1, 83894x2, 83898x1, 83912x1
1018 CFTR Screening Panel (CF102)     83891x1, 83894x1, 83898x12, 83904x12, 83909x2, 83912x1    
2000 CFTR Screening Panel (CF33)     83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1    

 

Cystic Fibrosis Transmembrane Regulatory (CFTR) Gene (CF 102)
Test Code Technique CPT Codes
1018 CFTR Screening Panel 83891x1, 83894x1, 83898x12, 83904x12, 83909x2, 83912x1
2000 CFTR Screening Panel 83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1

 

Diamond-Blackfan Anemia
Test Code Technique CPT Codes
2560 RPS19 Related DBA (Step 1) 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1
8542 DBA Step1 Only 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1
2460 RPL5 Related DBA (Step 2) 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1  
2480 RPL11 Related DBA (Step 2) 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1
2500 RPL35A Related DBA (Step 2) 83891x1, 83894x4, 83898x3, 83904x6, 83909x6, 83912x1  
2588 RPS26 Related DBA (Step 2) 83891x1, 83894x4, 83898x3, 83904x6, 83909x6, 83912x1
8544 DBA Step 2 Only RPL5, RPL11, RPL35A, RPS26     83891x1, 83894x17, 83898x16, 83904x32, 83909x32, 83912x3
2520 RPS7 Related DBA (Step 3)     83891x1, 83894x6, 83898x5, 83904x10, 83909x10, 83912x1
2540 RPS17 Related DBA (Step 3) 83891x1, 83894x6, 83898x5, 83904x10, 83909x10, 83912x1
2580 RPS24 Related DBA (Step 3) 83891x1, 83894x6, 83898x5, 83904x10, 83909x10, 83912x1
2584 RPS10 Related DBA (Step 3) 83891x1, 83894x5, 83898x4, 83904x8, 83909x8, 83912x1   
8545 DBA Step 1 and 2 Only RPS19, RPL5, RPL11, RPL35A, RPS26 83891x1, 83894x23, 83898x22, 83904x44, 83909x44, 83912x4
8547 DBA Step 2 and 3 Only RPL5, RPL11, RPL35A, RPS24, RPS17, RPS7, RPS26, RPS10      83891x1, 83894x32, 83898x31, 83904x62, 83909x62, 83912x6
8540 DBA Reflex Option All Genes, Steps 1 - 3     83891x1, 83894x38, 83898x37, 83904x74, 83909x74, 83912x7 
8548  DBA All Genes, Steps 1 - 3     83891x1, 83894x38, 83898x37, 83904x74, 83909x74, 83912x7 
5080 RPL19 Related DBA 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1 
5100 RPL26 Related DBA 83891x1, 83894x4, 83898x3, 83904x6, 83909x6, 83912x1

 

DICER1 Syndrome
Test Code Technique CPT Codes
2360 DICER1 Gene Sequencing Analysis 83891x1, 83894x27, 83898x26, 83904x52, 83909x52, 83912x1

 

Dyskeratosis Congenita
Test Code Technique CPT Codes
1960 DKC1 Gene Sequence Analysis 83891x1, 83894x16, 83898x15, 83904x30, 83909x30, 83912x1    
1980 TINF2 Gene Sequence Analysis 83891x1, 83894x2, 83898x1, 83904x2, 83909x2, 83912x1    
2120 TERC Gene Sequence Analysis 83891x1, 83894x2, 83898x1, 83904x2, 83909x2, 83912x1    
2140 Step 3 Only (TERT Gene Sequence Analysis)     83891x1, 83894x20, 83898x19, 83904x38, 83909x38, 83912x1    
5160 WRAP53 (TCAB1)- Gene Sequence Analysis     83891x1, 83894x11, 83898x10, 83904x20, 83909x20, 83912x1    
8160 DC Steps 1-3 Reflex Option to DKC1, TINF2, TERC, NHP2, NOP10, TERT     83891x1, 83894x39, 83898x38, 83904x75, 83909x76, 83912x3    
8161 DC Steps 1-3 Concurrent to DKC1, TINF2, TERC, NHP2, NOP10, TERT     83891x1, 83894x39, 83898x38, 83904x75, 83909x76, 83912x3    
8162 Step 1 only (DKC1, TINF2 Exon 6, TERC)     83891x1, 83894x18, 83898x17, 83904x34, 83909x34, 83912x1    
8163 Step 1 and Step 2 (DKC1, TINF2, TERC, NHP2, NOP10)     83891x1, 83894x20, 83898x19, 83904x38, 83909x38, 83912x2    
8164 Step 2 only (NHP2 exon 4, NOP10 exon 2)     83891x1, 83894x3, 83898x2, 83904x4, 83909x4, 83912x1    

 

Fabry Disease
Test Code Technique CPT Codes
1720 GLA Gene Sequence Analysis 83891x1, 83894x9, 83898x8, 83904x16, 83909x16, 83912x1    

 

Familial Hypercholesterolemia AMPLIFIED
Test Code Technique CPT Codes
2780 LDLR Gene Sequence Analysis 83891x1, 83894x18, 83898x17, 83904x20, 83909x20, 83912x1
2784 LDLR Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x18, 83909x1, 83912x1
2786 LDLR Gene Sequence Analysis and Deletion / Duplication 83891x1, 83894x18, 83898x17, 83900x1, 83901x18, 83904x27, 83909x27, 83912x2
2800 APOB Partial Gene Analysis 83891x1, 83894x2, 83898x1, 83904x2, 83909x2, 83912x1
2804 PCSK9 Gene Sequence Analysis 83891x1, 83894x12, 83898x11, 83904x22, 83909x22, 83912x1
8580 ADH Autosomal Dominant Hypercholesterolemia (LDLR Gene Sequence Analysis and APOB Partial Gene Sequence Analysis) 83891x1, 83894x19, 83898x18, 83904x25, 83909x25, 83912x1
8582 FH LDLR Gene Sequence Analysis and APOB Partial Gene Sequence Analysis Reflex Option to LDLR Deletion / Duplication 83891x1, 83894x19, 83898x18, 83904x27, 83900x1, 83901x18, 83909x27, 83912x2
8680 FH Comprehensive (LDLR Gene Sequence Analysis and APOB Partial Gene Sequence Analysis Reflex Option to LDLR Deletion / Duplication and Reflex Option to PCSK9) 83891x1, 83894x30, 83898x29, 83904x58, 83900x1, 83901x18, 83909x58, 83912x3

 

FAP Plus
Test Code Technique CPT Codes
8722 FAP PLUS Reflex Option (APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH) 83891x1, 83894x25, 83898x25, 83900x1, 83901x24, 83904x26, 83909x26, 83912x2
8726 FAP PLUS Concurrent (APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH Mutations) 83891x1, 83894x25, 83898x25, 83900x1, 83901x24, 83904x26, 83909x26, 83912x2
4660 MUTYH Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x12, 83909x12, 83912x1

 

Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis)
Test Code Technique CPT Codes
4544 Fragile X DNA Analysis (FMR1) 83891x1, 83894x1, 83900x1, 83901x21, 83909x1, 83912x1

 

FRAXE (FMR2) DNA Analysis
Test Code Technique CPT Codes
3020 FRAXE (FMR2) DNA Analysis 83891x1, 83892x2, 83894x1, 83896x1, 83898x1, 83912x1

 

Gaucher Disease
Test Code Technique CPT Codes
1820 GBA Gene Sequence Analysis 83891x1, 83894x15, 83898x14, 83904x22, 83909x22, 83912x1

 

GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism)
Test Code Technique CPT Codes
1370 GLUD1 Gene Sequence Analysis 83891x1, 83894x13, 83898x12, 83904x24, 83909x24, 83912x1

 

Glutaric Acidemia Type 1
Test Code Technique CPT Codes  
1600 GCDH Gene Sequence Analysis 83891x1, 83894x9, 83898x8, 83904x16, 83909x16, 83912x1  

 

Glutathione synthetase deficiency (GS)
Test Code Technique CPT Codes
4880 GSS Gene sequence analysis 83891x1, 83894x12 83898x11, 83904x22, 83909x22, 83912x1

 

Glycogen Storage Disease Types 1A & 1B
Test Code Technique CPT Codes
1880 G6PC Gene Sequence Analysis 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1
1900 SLC37A4 Gene Sequence Analysis 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1

 

HAE AMPLIFIED (SERPING1)
Test Codes Technique CPT Codes
2740 SERPING1 Gene Sequence Analysis 83891x1, 83894x8, 83898x7, 83904x15, 83909x15, 83912x1
2744 SERPING1 Deletion/Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x6, 83909x1, 83912x1
2746 SERPING1 Gene Sequence Analysis and Deletion/Duplication 83891x1, 83894x8, 83898x7, 83904x15, 83900x1, 83901x6, 83909x16, 83912x2

 

Hereditary Diffuse Gastric Cancer
Test Code Technique CPT Codes
4720 CDH1 Gene Sequence Analysis 83891x1, 83894x16, 83898x15, 83904x30, 83909x30, 83912x1
4724 CDH1 Deletion/Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x15, 83909x1, 83912x1
4726 CDH1 Gene Sequence Analysis and Deletion/Duplication 83891x1, 83894x16, 83898x15, 83900x1, 83901x15, 83904x30, 83909x31, 83912x2

 

Hereditary Thymine-Uraciluria / Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Code Technique CPT Codes
4960 DYPD Gene Sequence Analysis 83891x1, 83894x24, 83898x23, 83904x46, 83909x46, 83912x1

 

HHT AMPLIFIED™ & SMAD4-Related HHT
Test Code Technique CPT Codes
1680 HHT ACVRL1, ENG Gene Sequence Analysis and Deletion / Duplication 83891x1, 83894x25, 83898x24, 83904x29, 83900x1, 83901x27, 83909x29, 83912x32
1681 HHT Deletion / Duplication (ACVRL1, ENG) 83891x1, 83894x1, 83900x1, 83901x27, 83909x1, 83912x1
1683 HHT Gene Sequence Analysis (ACVRL1, ENG) 83891x1, 83894x25, 83898x24, 83904x29, 83909x29, 83912x2
1684 SMAD4 Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x15, 83909x15, 83912x1
1686 HHT SMAD4 Exons 8-11 Sequence 83891x1, 83894x5, 83898x4, 83904x8, 83909x8, 83912x1
1689 ENG Gene Sequence Analysis 83891x1, 83894x16, 83898x15, 83904x20, 83909x20, 83912x1
1690 ACVRL1 Gene Sequence Analysis 83891x1, 83894x10, 83898x9, 83904x18, 83909x18, 83912x1
8660 HHT Sequence Reflex Option (ACVRL1, ENG, Deletion / Duplication, SMAD4) 83891x1, 83894x35, 83898x34, 83904x42, 83900x1, 83901x27, 83909x42, 83912x4
8662 HHT Sequence Concurrent (ACVRL1, ENG, Deletion / Duplication, SMAD4) 83891x1, 83894x35, 83898x34, 83904x42, 83900x1, 83901x27, 83909x42, 83912x4
Call 1 HHT Single Gene Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x13, 83909x1, 83912x1

 

HNPCC / Lynch syndrome DNA Analysis
Test Code Technique CPT Codes
2200 MLH1 Gene Sequence Analysis 83891x1, 83894x17, 83898x16, 83904x17, 83909x17, 83912x1
2220 MSH2 Gene Sequence Analysis 83891x1, 83894x17, 83898x16, 83904x17, 83909x17, 83912x1
2240 EPCAM Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x9, 83909x1, 83912x1
2840 MSH6 Gene Sequence Analysis 83891x1, 83894x17, 83898x16, 83904x17, 83909x17, 83912x1
4640 PMS2 Gene Sequence Analysis 83891x1, 83894x19, 83898x18, 83904x27, 83909x27, 83912x1
4644 PMS2 Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x32, 83909x1, 83912x1
4646 PMS2 Gene Sequence Analysis and Deletion / Duplication 83891x1, 83894x20, 83898x18, 83900x1, 83901x32, 83904x27, 83909x28, 83912x2
8500 HNPCC Reflex Option: MLH1 and MSH2 Sequence With Reflex to MSH6 Sequence and Deletion / Duplication for All Genes Including EPCAM 83891x1, 83894x47, 83898x47, 83904x53, 83900x1, 83901x22, 83909x46, 83912x5
8504 Step 1 (MLH1, MSH2) 83891x1, 83894x31, 83898x31, 83904x31, 83909x31, 83912x2
8506 Step 2 (MLH1, MSH2 Deletion / Duplication, MSH6 Sequence and EPCAM Deletion / Duplication) 83891x1, 83894x16, 83898x17, 83904x17, 83900x2, 83901x22, 83909x17, 83912x3
8508 MLH1 Gene Sequence Analysis and Deletion / Duplication 83891x1, 83894x17, 83898x16, 83904x16, 83900x1, 83901x23, 83909x16, 83912x2
8510 MSH2 Gene Sequence Analysis and Deletion / Duplication Including EPCAM 83891x1, 83894x17, 83898x16, 83904x16, 83900x1, 83901x23, 83909x16, 83912x2
8512 MSH6 Gene Sequence Analysis and Deletion / Duplication 83891x1, 83894x17, 83898x16, 83904x16, 83900x1, 83901x23, 83909x16, 83912x2
8518 HNPCC Concurrent MLH1 and MSH2 Sequence and to MSH6 Sequence and Deletion / Duplication for All Genes Including EPCAM 83891x1, 83894x47, 83898x47, 83900x1, 83901x22, 83904x53, 83909x46, 83912x5
8700 MMR Profile by IHC (MLH1, MSH2, MSH6, PMS2) 88342x4
8702 MSI by PCR 83891x2, 83900x1, 83901x8, 83907x2, 83909x2, 88381x2, 83912x1
7978 MLH1 Hypermethylation Analysis 83898x3, 83904x1, 83896x2, 83907x1, 88381x1, 83912x1
7980 BRAF SMA V600E Analysis 83898x1, 83909x1, 83912x1, 99001x1
7982 MLH1 Hypermethylation with BRAF (Analysis of V600E only) Analysis 83896x4, 83898x5, 83904x1, 83907x2, 83912x4, 88381x2
Call 2 Any HNPCC Single Gene Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x18, 83909x1, 83912x1

 

Hunter Syndrome
Test Code Technique CPT Codes
1940 IDS Gene Sequence Analysis 83891x1, 83894x10, 83898x9, 83904x20, 83909x20, 83912x1

 

Hurler Syndrome
Test Code Technique CPT Codes
2160 IDUA Gene Sequence Analysis 83891x1, 83894x12, 83898x11, 83904x22, 83909x22, 83912x1

 

Idiopathic Pulmonary Fibrosis (IPF Telomerase)
Test Code Technique CPT Codes
8140 IPF Telomerase (TERT, TERC) 83891x1, 83894x21, 83898x20, 83904x40, 83909x40, 83912x2

 

INS-Related Diabetes, Neonatal Diabetes (INS-Related)
Test Code Technique CPT Codes
1360 KCNJ11 Gene Sequence Analysis            83891x1, 83894x5, 83898x4, 83904x8, 83909x8, 83912x1
1620 INS Gene Sequence Analysis 83891x1, 83894x3, 83898x2, 83904x4, 83909x4, 83912x1

 

Juvenile Polyposis AMPLIFIED™
Test Code Technique CPT Codes
1685 SMAD4 Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x15, 83909x15, 83912x1
2820 BMPR1A Gene Sequence Analysis 83891x1, 83894x10, 83898x9, 83904x18, 83909x18, 83912x1
8600 BMPR1A and SMAD4 Deletion / Duplication Analysis 83891x1, 83900x1, 83901x28, 83909x1, 83912x1
8602 JPS Gene Sequence Analysis BMPR1A, SMAD4 Reflex Option to Deletion / Duplication 83891x1, 83894x20, 83898x19, 83900x1, 83901x28, 83904x33, 83909x34, 83912x3
8604 JPS Gene Sequence Analysis BMPR1A, SMAD4 Concurrent to Deletion / Duplication 83891x1, 83894x20, 83898x19, 83900x1, 83901x28, 83904x33, 83909x34, 83912x3
Call 3 If sequencing is informative and deletion / duplication is cancelled 83891x1, 83894x20, 83898x19, 83904x33, 83909x33, 83912x2
Call 4 JPS Any Single Gene Deletion / Duplication 83891x1, 83894x1, 83900x1, 83901x13, 83909x1, 83912x1

 

L1CAM-Related XLMR
Test Code Technique CPT Codes
4780 L1CAM Gene Sequence Analysis 83891x1, 83894x20, 83898x19, 83904x36, 83909x36, 83912x1

 

LEOPARD Syndrome
Test Code Technique CPT Codes
2280 PTPN11 Gene Sequence Analysis 83891x1, 83894x15, 83898x14, 83904x28, 83909x28, 83912x1

 

Li-Fraumeni Syndrome (TP53 AMPLIFIED)
Test Code Technique Days
2860 TP53 Gene Sequence Analysis 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1
2864 TP53 Deletion/Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x10, 83909x1, 83912x1
2866 TP53 Sequence and Deletion/Duplication 83891x1, 83894x8, 83898x7, 83904x14, 83900x1, 83901x10, 83909x15, 83912x2

 

Malignant Melanoma (CDKN2A/p16)
Test Code Technique CPT Codes
4700 CDKN2A/p16 Melanoma 83891x1, 83894x6, 83898x5, 83904x10, 83909x10, 83912x1

 

Marfan Syndrome and Marfan-Related Disorders Next-Gen Sequencing Panel
Test Code Technique CPT Codes
8780 Marfan Syndrome and Marfan Related Disorders Next-Gen Sequencing Panel 83891x1, 83892x5, 83894x8, 83898x5, 83900x1, 83901x68, 83904x68, 83909x15, 83912x1

 

Mucolipidosis Type IV
Test Code Technique CPT Codes
5180 MCOLN1 Gene Sequence Analysis 83891x1, 83894x10, 83898x9, 83904x18, 83909x18, 83912x1

 

Multiple Endocrine Neoplasia Type 2 (MEN2)
Test Code Technique CPT Codes
2640  MEN Type 1 (MEN1 Gene Sequence Analysis) 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1
2680 MEN Type 2 (RET Gene Sequence Analysis 83891x1, 83894x21, 83898x20, 83904x35, 83909x35, 83912x1

 

Multiple Endocrine Neoplasia Type1 (MEN1)
Test Code Technique CPT Codes
2640 MEN Type 1
(MEN1 Gene Sequence Analysis)		 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1
2680 MEN Type 2
(RET Gene Sequence Analysis) 		 83891x1, 83894x21, 83898x20, 83904x35, 83909x35, 83912x1

 

MUTYH-associated Polypsis (MAP)
Test Code Technique CPT Codes
4660 MUTYH Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x12, 83909x12, 83912x1
8720 MUTYH Associated Polyposis (MUTYH-2 Mutations Reflex Option to Sequence if Only 1 Mutation Found) 83891x1, 83894x3, 83898x2, 83904x4, 83909x4, 83912x1

 

Niemann-Pick Disease Types A & B
Test Code Technique CPT Codes
1860 SMPD1 Gene Sequence Analysis 83891x1, 83894x10, 83898x9, 83904x18, 83909x18, 83912x1

 

NLGN3-Related XLMR
Test Code Technique CPT Codes
3380 NLGN3 Gene Sequence Analysis 83891x1, 83894x9, 83898x8, 83904x16, 83909x16, 83912x1

 

NLGN4-Related XLMR
Test Code Technique CPT Codes
3400 NLGN4 Gene Sequence Analysis 83891x1, 83894x9, 83898x8, 83904x16, 83909x16, 83912x1

 

Noonan Syndrome and Noonan/LEOPARD Syndrome
Test Code Technique CPT Codes
2280 PTPN11 Gene Sequence Analysis 83891x1, 83894x15, 83898x14, 83904x28, 83909x28, 83912x1
2284 Step 1 Only (PTPN11) 83891x1, 83894x15, 83898x14, 83904x28, 83909x28, 83912x1
2300 SOS1-Related Noonan Disorders 83891x1, 83894x25, 83898x24, 83904x48, 83909x48, 83912x1
2320 RAF1 Gene Sequence Analysis 83891x1, 83894x15, 83898x14, 83904x30, 83909x30, 83912x1
2340 KRAS Gene Sequence Analysis 83891x1, 83894x6, 83898x5, 83904x10, 83909x10, 83912x1
8400 Ambry SEQUENCE: Noonan Reflex Option (PTPN11, SOS1, RAF1, KRAS) 83891x1, 83894x48, 83898x47, 83904x94, 83909x94, 83912x4
8402 Ambry SEQUENCE: Noonan Concurrent (PTPN11, SOS1, RAF1, KRAS) 83891x1, 83894x48, 83898x47, 83904x94, 83909x94, 83912x4
8420 Step 2 Only (SOS1, Partial RAF1, KRAS) 83891x1, 83894x34, 83898x33, 83904x66, 83909x66, 83912x3
8460 LEOPARD Syndrome (PTPN11, partial RAF1) 83891x1, 83894x19, 83898x18, 83904x36, 83909x36, 83912x2

 

PAH AMPLIFIED™ (Pulmonary Arterial Hypertension)
Test Code Technique CPT Codes
1540 BMPR2 Gene Sequence and Deletion / Duplication 83891x1, 83894x17, 83898x16, 83904x33, 83900x1, 83901x13, 83909x33, 83912x2
1541 BMPR2 Deletion / Duplication 83891x1, 83894x1, 83900x1, 83901x13, 83909x1, 83912x1

 

PALB2-Related Cancer
Test Code Technique CPT Codes
2360 PALB2 Gene Sequence Analysis 83891x1, 83894x16, 83898x15, 83904x30, 83909x30, 83912x1

 

Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup)
Test Code Technique CPT Codes
8020 Pancreatitis Panel (CFTR, PRSS1, SPINK1) 83891x1, 83894x4, 83898x94, 83903x44, 83904x3, 83909x3, 83912x3
8040 Pancreatitis Panel and CFTR Deletion / Duplication 83891x1, 83894x2, 83898x89, 83903x41, 83904x3, 83900x1, 83901x27, 83909x3, 83912x4

 

Pancreatitis Panel (PRSS1, SPINK1, CFTR)
Test Code Technique CPT Codes
8020 Pancreatitis Panel (CFTR, PRSS1, SPINK1) 83891x1, 83894x4, 83898x94, 83903x44, 83904x3, 83909x3, 83912x3

 

Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC gene sequence)
Test Code Technique CPT Codes
8022 Pancreatitis Panel Plus (CFTR, PRSS1, SPINK1, CTRC) 83891x1, 83894x10, 83898x89, 83903x41, 83904x17, 83909x17, 83912x4

 

Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence)
Technique CPT Codes
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC) 83891, 83894, 83898, 83903, 83904, 83909, 83912
Pancreatitis AMPLIFIED (CFTR with deletion/duplication,PRSS1, SPINK1) 83891, 83894, 83898, 83903, 83904, 83900, 83901, 83909, 83912
Pancreatitis (CFTR, PRSS1, SPINK1) 83891, 83894, 83898, 83903, 83904, 83909, 83912
PRSS1 83891, 83894, 83898, 83903, 83904, 83909, 83912
SPINK1 83891, 83894, 83898, 83903, 83904, 83909, 83912
Chymotrypsin C 83891, 83894, 83898, 83904, 83909, 83912
Specific mutation analysis, any gene 83891, 83894, 83898, 83904, 83909, 83912

 

Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel
Test Code Technique Days
5416 PGL-PCC Panel MLPA (SDHB, SDHC, SDHD, SDHAF2) 83891x1, 83900x1, 83901x24, 83909x1, 83912x1
5418 PGL-PCC Panel Plus MLPA (SDHB, SDHC, SDHD, SDHAF2, TMEM127) 83891x1, 83894x28, 83898x27, 83900x1, 83901x24, 83904x52, 83909x53, 83912x2

 

PCD 61™
Test Code Technique CPT Codes
8120 PCD 61 (DNAH5 and DNAI1 Mutation Panel) 83891x1, 83894x1, 83898x20, 83904x20, 83909x20, 83912x1

 

Peutz-Jeghers AMPLIFIED™
Test Code Technique CPT Codes
2760 STK11 Gene Sequence Analysis 83891x1, 83894x9, 83898x8, 83904x16, 83909x16, 83912x1
2764 STK11 Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x11, 83909x1, 83912x1
2766 STK11 Sequencing and Deletion / Duplication 83891x1, 83894x9, 83898x8, 83904x17, 83900x1, 83901x11, 83909x16, 83912x2

 

Phenylketonuria-PKU
Test Code Technique CPT Codes
1760 PAH Gene Sequence Analysis 83891x1, 83894x14, 83898x13, 83904x21, 83909x21, 83912x1

 

Pompe Disease
Test Code Technique CPT Codes
1740 GAA Gene Sequence Analysis 83891x1, 83894x19, 83898x18, 83904x36, 83909x36, 83912x1

 

PQBP1-Related XLMR
Test Code Technique CPT Codes
3440 PQBP1-Related XLMR 83891x1, 83894x7, 83898x6, 83904x12, 83909126, 83912x1

 

Prader-Willi Syndrome SNRPN Methylation Analysis
Test Code Technique CPT Codes
2400 UBE3A Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x23, 83909x23, 83912x1
2420 Angelman Syndrome, X-Linked SLC9A6 83891x1, 83894x16, 83898x15, 83904x28, 83909x28, 83912x1
2440 SNRPN Methylation 83891x1, 83892x1, 83894x2, 83898x1, 83904x3, 83909x3, 83912x1
8520 Angelman Syndrome SNRPN and UBE3A 83891x1, 83892x1, 83894x12, 83898x11, 83904x26, 83909x26, 83912x2

 

Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
Test Code Technique CPT Codes
8122 PCD Panel 83891x1, 83892x5, 83894x8, 83898x5, 83900x1, 83901x83, 83904x92, 83909x15, 83912x1

 

PTEN-Related Disorders (including Autism Spectrum Disorder)
Test Code Technique CPT Codes
2100 PTEN Gene Sequence Analysis 83891x1, 83894x12, 83898x11, 83904x22, 83909x22, 83912x1
2104 PTEN Deletion / Duplication Only 83891x1, 83894x1, 83900x1, 83901x23, 83909x1, 83912x1
2106 PTEN Sequencing and Deletion / Duplication 83891x1, 83894x12, 83898x11, 83904x22, 83900x1, 83901x23, 83909x23, 83912x2

 

RET-Related Hirschsprung Disease
Test Code Technique CPT Codes
2700 RET Gene Sequence Analysis Reflex Option 83891x1, 83894x21, 83898x20, 83904x35, 83909x35, 83912x1
2708 RET Gene Sequence Analysis Concurrent 83891x1, 83894x21, 83898x20, 83904x35, 83909x35, 83912x1
2704 RET Partial Sequence Analysis - Step 1 only 83891x1, 83894x10, 83898x9, 83904x18, 83909x18, 83912x1

 

Rett Syndrome
Test Code Technique CPT Codes
2020
MECP2 Gene Sequence Analysis		 83891x1, 83894x9, 83898x8, 83904x16, 83909x16, 83912x1
2022
MECP2 Deletion / Duplication		 83891x1, 83894x1, 83900x1, 83901x12, 83909x1, 83912x1
2026
MECP2 Gene Sequence and Deletion / Duplication		 83891x1, 83894x9, 83898x8, 83900x1, 83901x12, 83904x16, 83909x17, 83912x2
2040 CDKL5 Gene Sequence Analysis 83891x1, 83894x23, 83898x22, 83904x43, 83909x43, 83912x1
2028 Rett Syndrome Steps 1-3 Concurrent (CDKL5 and MECP2, With MECP2 Deletion / Duplication) 83891x1, 83894x32, 83898x30, 83900x1, 83901x12, 83904x59, 83909x60, 83912x3
8200 Rett Syndrome Steps 1-3. (MECP2 Sequence Reflex Option to MECP2 Deletion / Duplication Reflex Option to CDKL5 Sequence) 83891x1, 83894x32, 83898x30, 83900x1, 83901x12, 83904x59, 83909x60, 83912x3

 

Rett Syndrome, Typical and Atypical
Test Code Technique CPT Codes
2020 MECP2 Gene Sequence Analysis 83891, 83894, 83898, 83900, 83901, 83904, 83909, 8391
2022 MECP2 Deletion / Duplication 83891, 83894 83898, 83904, 83909,8391
2026 MECP2 Gene Sequence and Deletion / Duplication 83891, 83894, 83900, 83901, 83909, 8391
2040 CDKL5 Gene Sequence Analysis 83891x1, 83894x23, 83898x22, 83904x43, 83909x43, 83912x1
2028 Rett Syndrome Steps 1-3 Concurrent (CDKL5 and MECP2, With MECP2 Deletion / Duplication) 83891x1, 83894x32, 83898x30, 83900x1, 83901x12, 83904x59, 83909x60, 83912x3
8200 Rett Syndrome Steps 1-3. (MECP2 Sequence Reflex Option to MECP2 Deletion / Duplication Reflex Option to CDKL5 Sequence) 83891x1, 83894x32, 83898x30, 83900x1, 83901x12, 83904x59, 83909x60, 83912x3

 

Shwachman-Diamond Syndrome
Test Code Technique CPT Codes
1440 SBDS Gene Sequence Analysis 83891x1, 83894x5, 83898x4, 83904x10, 83909x10, 83912x1

 

SLC16A2-Related XLMR
Test Code Technique CPT Codes
4260 SLC16A2 Gene Sequence Analysis 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1

 

Smith-Lemli-Opitz Syndrome (SLOS)
Test Code Technique CPT Codes
2180 DHCR7 Gene Sequence Analysis 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1

 

Surfactant Dysfunction
Test Code Technique CPT Codes
1160 SFTPB Gene Sequence Analysis 83891x1, 83894x11, 83898x10, 83904x20, 83909x20, 83912x1
1180 SFTPC Gene Sequence Analysis 83891x1, 83894x6, 83898x5, 83904x11, 83909x11, 83912x1
8100 Surfactant Panel (ABCA3, SFTPB, SFTPC) 83891x1, 83894x46, 83898x45, 83904x71, 83909x71, 83912x3

 

Surfactant Panel (SFTPB, SFTPC, ABCA3)
Test Code Technique CPT Codes
8100 Surfactant Panel (ABCA3, SFTPB, SFTPC) 83891x1, 83894x46, 83898x45, 83904x71, 83909x71, 83912x3

 

SYP-Related XLMR
Test Code Technique CPT Codes
3500 SYP Gene Sequence Analysis 83891x1, 83894x7, 83898x6, 83904x12, 83909x12, 83912x1

 

Tay-Sachs Plus
Test Code Technique CPT Codes
1240 Tay-Sachs Plus (HEXA gene sequence)  83891x1, 83894x16, 83898x15, 83904x28, 83909x28, 83912x1
5240 Tay-Sachs Enzyme (HEXA Leukocyctes)  83080x1, 83912x1

 

Thrombophilia FlexPanel
Test Code Technique CPT Codes
5140 Thrombophilia Mutation Panel 83891x1, 83894x3, 83898x9, 83904x6, 83909x6, 83912x3
5141 Factor II Mutation Panel 83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1
5143 Factor V Leiden Mutation Panel 83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1
5145 MTHFR Mutation Panel 83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1

 

Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C)
Test Code Technique CPT Codes
5140 Thrombophilia Mutation Panel 83891x1, 83894x3, 83898x9, 83904x6, 83909x6, 83912x3
5141 Factor II Mutation Panel  83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1
5143 Factor V Leiden Mutation Panel 83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1
5145 MTHFR Mutation Panel 83891x1, 83894x1, 83898x1, 83904x2, 83909x2, 83912x1

 

Transthyretin Amyloidosis
Test Code Technique CPT Codes
1560 TTR Gene Sequence Analysis  83891x1, 83894x5, 83898x4, 83904x8, 83909x8, 83912x1

 

UPF3B-Related XLMR
Test Code Technique CPT Codes
3540 UPF3B-Related XLMR 83891x1, 83894x12, 83898x11, 83904x22, 83909x22, 83912x1

 

Von Hippel-Lindau Disease
Test Code Technique CPT Codes
2600 VHL Gene Sequence Analysis 83891x1, 83894x4, 83898x3, 83904x6, 83909x6, 83912x1
2604 VHL Deletion / Duplication Analysis 83891x1, 83894x1, 83900x1, 83901x7, 83909x1, 83912x1
2606 VHL Sequencing and Deletion / Duplication 83891x1, 83894x4, 83898x3, 83900x1, 83901x7, 83904x6, 83909x7, 83912x2

 

Wilson Disease
Test Code Technique CPT Codes
1840 ATP7B Gene Sequence Analysis 83891x1, 83894x26, 83898x26, 83904x33, 83909x33, 83912x1

 

XLMR 180K Oligo ArrayPlus
Test Code Technique CPT Codes
8630 XLMR Evaluation (CMA: 180K Oligo Array, XLMR SuperPanelTM) 83891x1, 83892x7, 83894x23, 83898x10, 83900x1, 83901x80, 83904x80, 83909x20, 83912x2, 88384x1, 88385x1, 88386x3

 

XLMR Next-Gen SuperPanel
Test Code Technique CPT Codes
8626 XLMR Next-Gen SuperPanel 83891x1, 83892x5, 83894x22, 83898x10, 83904x80, 83900x1, 83901x80, 83909x20, 83912x1

 

XLMR/Intellectual Disabilities Evaluation
Test Code Technique CPT Codes
8630 XLMR Evaluation (CMA: 180K Oligo Array, XLMR SuperPanel) 83891x1, 83892x7, 83894x23, 83898x10, 83900x1, 83901x80, 83904x80, 83909x20, 83912x2, 88384x1, 88385x1, 88386x3

 

ZNF711-Related XLMR
Test Code Technique CPT Codes
3640 ZNF711 Gene Sequence Analysis 83891x1, 83894x10, 83898x9, 83904x18, 83909x18, 83912x1

 

ZNF81-Related XLMR
Test Code Technique CPT Codes
3600 ZNF81-Related XLMR 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1