Emory Genetics Laboratory
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CPT Codes
Prices subject to change
Test Name Turnaround CPT Codes Price
3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency (HMG): Sequencing of the HMGCL gene 8 weeks Sequencing (GZ): 83891, 83898x12, 83894, 83904x24, 83909x24, 83912
Del/Dup (HD): 83890, 83892x2, 83894, 83896x12, 83897, 88384, 88385, 88386 		$1,200 Sequencing (GZ)
$1,500 Del/Dup (HD)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) - Gene Sequencing 8 weeks Sequencing (JY): 83891x1, 83898x45, 83894x1, 83904x90, 83909x90, 83912x1 Del/Dup (JZ):83890x1, 83892x2, 83894x1, 83896x45, 83897x1, 88384x1, 88385x1, 88386x1 $2,500 Sequencing (JY)
$2,200 Del/Dup (JZ)
9q34 Subtelomeric Deletion Syndrome: Sequencing of the EHMT1 Gene Sequencing: 6-8 weeks;
Deletion/duplication analysis: 6-8 weeks		 Sequencing (JO): 83891, 83898x34, 83894, 83904x68, 83909x68, 83912
Del/Dup (JP): 83890, 83892x2, 83894, 83896x34, 83897, 88384, 88385, 88386 		$2,800 sequencing (JO)
$1,500 del/dup (JP)
Acylcarnitine Profile 1 week for routine samples. STAT results are available in 1 day. 80500, 82017 $189
Alpha-Fucosidosis 7-10 days 80500, 82657 $263
Alpha-Mannosidosis 7-10 days 80500, 82657 $263
Alpha-Mannosidosis - Gene Sequencing 8 weeks Sequencing: 83891, 83898 x24, 83894, 83904 x48, 83909 x48, 83912 Del/Dup: 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1 $2,550 seqencing
$1,500 del/dup
Alpha-Thalassemia 3 weeks 83891, 83892 (x2), 83894 (x2), 83896, 83897;
83912-22		 $473
Amino Acids 1 week for routine samples. STAT results are available in 1 day. Plasma & CSF: 80500, 82139;
Filter Paper: 82136;
Urine: 80500, 82139, 82570		 $274, Plasma & CSF
Filter Paper: $53
Urine: $274
Amniotic Fluid Analysis, Amniocentesis 2-4 days for AF-AFP;
6-10 days for standard chromosome analysis;
1-2 days for FISH analysis. 		AD: 88235, 88267, 88280, 88291
AP: 82106
AC: 82013 		$1,068 (AD and AP), $87 (AC, if required)
Angelman-Like Syndrome: Sequencing of the SLC9A6 Gene Sequencing: 8 weeks;
Deletion/duplication analysis: 8 weeks		 Sequencing (PQ): 83891, 83898x16, 83894, 83904x32, 83909x32, 83912 Del/Dup (PN): 83890, 83892x2, 83894, 83896x24, 83897, 88384, 88385, 88386 $1,600 sequencing (PQ)
$1,500 del/dup (PN)
Argininosuccinate Lyase Deficiency Sequencing: 8 weeks;
Deletion/duplication analysis: 8 weeks		 Sequencing (JB): 83891, 83898x14, 83894, 83904x28, 83909x28, 83912
Del/Dup (JC): 83890, 83892x2, 83894, 83896x14, 83897, 88384, 88385, 88386 		$1,400, sequencing (JB)
$1,500 del/dup (JC)
Array CGH - EmArray Cyto6000 7-10 days 83890, 83892(x2), 83894, 83896(x10), 83897, 88384, 88385, 88386, 88230 $1,695
Ashkenazi Jewish Comprehensive Carrier Screening 2 weeks 83891, 83912, 83898 (x31), 83914 (x31), 83909 $1,895
Autism Panel 3 weeks Males (ES): 83890, 83891, 83892 x2, 83894 x2, 83896 x10, 83897, 83898 x2, 83909, 83912, 88230, 88384, 88385, 88386. Females (ER): 83890, 83891, 83892 x3, 83894 x2, 83896 x11, 83897 x3, 83898, 83909, 83912, 88230, 88384, 88385, 88386. $2,000
Autism Reflex Testing: Sequencing of the PTEN Gene 6-8 weeks 83891, 83898x11, 83894, 83904x22, 83909x22, 83912 $1,200
Autosomal Dominant Optic Atrophy, Kjer type, OPA1 8 weeks Sequencing (DL): 83891, 83898(x30), 83904(x60), 83912, 83894, 83909
Del/Dup (KO):83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $2,731, sequencing (DL)
$1,500, del/dup (KO)
Autosomal Dominant Optic Atrophy, OPA3 8 weeks Sequencing (AF): 83891, 83898 x3, 83894, 83904 x6, 83909 x6, 83912
De/Dup (KN): 83890x1, 83892x2, 83894x1, 83896x3, 83897x1, 88384x1, 88385x1, 88386x1		 $850, sequencing (AF)
$1,500, del/dup (KN)
Bamforth Lazarus Syndrome: Sequencing of the FOXE1 Gene 8 weeks 83891, 83898x10, 83894, 83904x20, 83909x20, 83912 $1,000
Beckwith-Wiedemann Syndrome - Methylation of H19 3 weeks 83891, 83898, 83896-22 x2, 83912 $369
Beckwith-Wiedemann Syndrome - Methylation of Lit1 3 weeks 83891, 83898, 83896 x2, 83912 $369
Beckwith-Wiedemann Syndrome Panel - Methylation of H19 & Lit1 2 weeks 83891, 83898 x 2, 83896 x 4, 83912 $527
Beta-Mannosidosis 7-10 days 80500, 82657 $263
Beta-Mannosidosis - Gene Sequencing 8 weeks Sequencing (AI);
83891, 83898 x21, 83894, 83904 x42, 83909 x42, 83912
Del/Dup (KW): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,807, sequencing (AI)
$1,500, del/dup (KW)
Biotinidase Deficiency 1 week 82261 $105
Biotinidase Deficiency - Gene Sequencing 8 weeks Sequencing (JI): 83891x1, 83898x9, 83894x1, 83904x18, 83909x18, 83912x1 Del/Dup (JJ):83890x1, 83892x2, 83894x1, 83896x9, 83897x1, 88384x1, 88385x1, 88386x1 $800 Sequencing (JI)
$1,500 Del/Dup (JJ)
Carnitine Concentration 1 week routine, STAT 1 day. 82379, 80500 $158
Carnitine Deficiency - Gene Sequencing 8 weeks Sequencing (KC): 83891x1, 83898x17, 83894x1, 83904x34, 83909x34, 83912x1 Del/Dup (KE):83890x1, 83892x2, 83894x1, 83896x17, 83897x1, 88384x1, 88385x1, 88386x1 $1,200 Sequencing (KC)
$1,500 Del/Dup (KE)
Carnitine Palmitoyltransferase 1A Deficiency: Sequencing of the CPT1A Gene 8 weeks Sequencing (PX): 83891, 83898x18, 83894, 83904x36, 83909x36, 83912
Coming soon - Del/Dup (PZ): 83890, 83892x2, 83894, 83896x18, 83897, 88384, 88385, 88386 		$1,800, sequencing (PX)
Coming soon - $1,500 del/dup (PZ)
Carnitine Palmitoyltransferase II Deficiency: Sequencing of the CPT2 Gene Sequencing: 8 weeks;
Deletion/duplication analysis: 8 weeks		 Sequencing (EW): 83891, 83898x11, 83894, 83904x22, 83909x22, 83912
Del/Dup (EX): 83890, 83892x2, 83894, 83896x11, 83897, 88384, 88385, 88386 		$1,100, sequencing (EW)
$1,500 del/dup (EX)
Carnitine-Acylcarnitine Translocase Deficiency: Sequencing of the SLC25A20 Gene Sequencing: 8 weeks;
Deletion/Duplication analysis: 8 weeks		 Sequencing (HQ): 83891, 83898x11, 83894, 83904x22, 83909x22, 83912
Del/Dup (HR): 83890, 83892x2, 83894, 83896x11, 83897, 88384, 88385, 88386 		$1,100, sequencing (HQ)
$1,500 del/dup (HR)
Chromosome Analysis for Mosaicism, Peripheral Blood 10 days 88230, 88262, 88285, 88291 $894
Chromosome Analysis, Chorionic Villi 6-10 days 88172, 88235, 88261,88267, 88291 $1,157
Chromosome Analysis, Fetal Blood (Percutaneous Umbilical Blood Sampling, or PUBS) 5 days;
Preliminary analysis may be available within 2-3 days. 		88230, 88262, 88291 $841
Chromosome Analysis, Peripheral Blood 7 days for infants under 6 months of age;
14 days for all other samples.
Preliminary reports may be available for STAT cases within 2-3 days by request.		 CA, CB: 88230, 88262, 88291 $841 (CA, CB)
Chromosome Analysis, Products of Conception, POC 10-20 days 88233, 88262, 88291 $900
Chromosome Analysis, Skin or Other Tissue 10-20 days 88233, 88262, 88291 $946
Chromosome Analysis, Targeted Family Member Study 3-5 days 88230, 88261, 88291 $421
Chronic Progressive External Ophthalmoplegia (CPEO) 4 weeks 83891, 83892(x3), 83894(x4), 83896, 83897(x4), 83912 $685
Citrullinemia: Sequencing of the Argininosuccinate Synthase Gene 8 weeks Sequencing (JG): 83891, 83898x15, 83894, 83904x30, 83909x30, 83912
Del/Dup (JH): 83890, 83892x2, 83894, 83896x15, 83897, 88384, 88385, 88386		 $1,800, sequencing (JG)
$1,500 del/dup (JH)
Coenzyme Q10 7-10 days 80500, 82491 $221
Congenital Adrenal Hyperplasia: Sequencing of the CYP21A2 Gene 8 weeks 83891, 83898x12, 83894, 83904x24, 83909x24, 83912 $1,200
Congenital Heart Disease - Sequencing for the NKX2.5 gene Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (DK): 83891, 83898(x2), 83904(x6), 83912
Del/Dup (KP): 83890x1, 83892x2, 83894x1, 83896x14, 83897x1, 88384x1, 88385x1, 88386x1		 $850, sequencing (DK)
$1,500, del/dup (KP)
Congenital Hypothyroidism Panel: Sequencing of the PAX8 and FOXE1 Genes 6-8 weeks 83891, 83898x26, 83894, 83904x52, 83909x52, 83912 $2,200
Congenital Hypothyroidism: Sequencing of the FOXE1 Gene 6-8 weeks 83891, 83898x10, 83894, 83904x20, 83909x20, 83912 $1,000
Congenital Hypothyroidism: Sequencing of the PAX8 Gene 8 weeks 83891, 83898x16, 83894, 83904x32, 83909x32, 83912 $1,400
Congenital Hypotonia Panel 3 weeks 83891, 83892(x3), 83894(x4), 83896(x2), 83897, 83898(x5), 83912(x3) $1,239
Custom Diagnostics Call lab 83891, 83898, 83904(x2), 83912 $379
Cystic Fibrosis - Common Mutation Panel 2 weeks 83891, 83900, 83901, 83914, 83912 $316
Cystic Fibrosis - Sequencing of the CFTR gene 8 weeks Sequencing (JK): 83891x1, 83898x40, 83894x1, 83904x80, 83909x80, 83912x1
Del/Dup (JL):83890x1, 83892x2, 83894x1, 83896x40, 83897x1, 88384x1, 88385x1, 88386x1 		$2,000 Sequencing (JK): Del/Dup (JL) $1,500
Duchenne/Becker Muscular Dystrophy - EmArray Dystrophin CGH 3 weeks 83890, 83892 (x2), 83894, 83896 (x10), 83897, 88384, 88385, 88386 $900
Duchenne/Becker Muscular Dystrophy - EmArray Dystrophin Resequencing Array 4 weeks 83890, 83892 (x2), 83894, 83896 (x10), 83897, 88384, 88385, 88386, 83898 (x85), 83904(x85) $2,313
Duchenne/Becker Muscular Dystrophy - cDNA Sequencing 4-6 weeks 83891, 83898x14, 83894, 83904x28, 83909x28, 83912 $1,400
FISH Analysis, Microdeletion Disorders 7-10 days If ordered with chromosome analysis: 88271 (x2), 88273, 88291;
If ordered alone: 88230, 88271(x2), 88273, 88291. 		$474 (ordered with chromosome analysis)
$632 (ordered without chromosome analysis)
FISH Analysis, Other STAT 1-2 days 88271(x2), 88275(x2), 88291 $527
FISH Analysis, Prenatal Aneuploidy Rapid Screen 24-48 hours 88271(x2), 88275, 88291 $474
FISH Analysis, Prenatal Microdeletion Panel 10 days 88235, 88271(X6), 88273(X2), 88291 $682
FISH Analysis, Products of Conception Aneuploidy Screen 14-21 days 88271(x3), 88275(x3), 88291 $800
FISH Analysis, Proximal Pseudogene Region on 15q 7-10 days 88271(x2), 88273, 88291;
PA: 88230-52, 88271(x2), 88273, 88291		 $474 (FI)
$632 (PA)
FMR1-Related Premature Ovarian Failure 3 weeks 83891, 83892, 83894, 83896, 83897, 83898, 83909, 83912 $449
Fabry Disease Enzyme Activity 7-10 days 80500, 82657, 84157 $257
Fabry Disease: Sequencing of the Alpha Galactosidase A gene 8 weeks Sequencing (DG): 83891, 83898(x7), 83904(x14), 83912
Del/Dup (KX): 83890x1, 83892x2, 83894x1, 83896x7, 83897x1, 88384x1, 88385x1, 88386x1		 $1,023, sequencing (DG)
$1,500, del/dup (KX)
Familial mutation testing Call lab 83891, 83898, 83904(x2), 83912 $379
Fragile X 3 weeks females;
2 weeks males		 Females: 83891, 83892, 83894, 83896, 83897, 83898, 83909, 83912;
Males: 83891, 83898(x2), 83894, 83909, 83912		 $449 (Females)
$386 (Males)
Fragile X - Sequencing of the FMR1 Gene Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (FU): 83891, 83898(x18), 83904(x37), 83912
Del/Dup (KQ): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $2,341, sequencing (FU)
$1,500, del/dup (KQ)
Fragile X Tremor/Ataxia Syndrome (FXTAS) 14 days 83891, 83892, 83894, 83896, 83897, 83898, 83909, 83912 $449
GM1 Gangliosidosis 7-10 days 80500, 82657 $263
GM1 Gangliosidosis - Gene Sequencing 8 weeks Sequencing (DU): 83891, 83898 x16, 83894, 83904 x32, 83909 x32, 83912
Del/Dup (KZ): 83890, 83892 (x2), 83894, 83896 (x10), 83894, 88385, 88386		 $1,700, sequencing (DU)
$1,500, del/dup (KZ)
Galactose-1-Phosphate 1 week 80500, 84378 $190
Galactosemia - Biochemical Phenotype Panel 7-10 days 80500, 82664, 82775, 84311 $348
Galactosemia - Carrier Panel 1-2 weeks 80500, 82664, 82775, 83891, 83894, 83900, 83901(x2), 83914, 84311 $527
Galactosemia - Comprehensive Panel 1-2 weeks 80500, 82664, 82775, 83891, 83894, 83900, 83901(x2), 83914, 84311, 84378 $632
Galactosemia - Epimerase - Gene Sequencing 8 weeks Sequencing (JU): 83891x1, 83898x11, 83894x1, 83904x22, 83909x22, 83912x1 Del/Dup (JV):83890x1, 83892x2, 83894x1, 83896x11, 83897x1, 88384x1, 88385x1, 88386x1 $1,100 Sequencing (JU)
$1,500 Del/Dup (JV)
Galactosemia - Epimerase Activity; Red Blood Cell 7-10 days 80500, 82657, 84311 $300
Galactosemia - GALT Common Mutation Panel 2 weeks 83891, 83894, 83900, 83901(x2), 83912, 83914-22 $459
Galactosemia - GALT Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (SG): 83891, 83898(x8), 83904(16), 83912, 83894, 83909
Del/Dup (XZ): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,302, sequencing (SG)
$1,500, del/dup (XZ)
Galactosemia - Galactitol 1 week 82570, 84378, 80500 $201
Galactosemia - Galactokinase Deficiency 7-10 days 80500, 82759, 84311, 82658 $263
Galactosemia - Galactokinase Deficiency - Gene Sequencing 8 weeks Sequencing (IQ): 83891x1, 83898x15, 83894x1, 83904x30, 83909x30, 83912x1 Del/Dup (JA):83890x1, 83892x2, 83894x1, 83896x15, 83897x1, 88384x1, 88385x1, 88386x1 $1,500 Sequencing (IQ)
$1,500 Del/Dup (JA)
Gaucher Disease, Angiotensin Converting Enzyme, ACE 7-10 days 82164 $168
Gaucher Disease, Biomarker Panel, ACE, CHITO, TRAP 7-10 days 80500, 82164, 82657(x2) $526
Gaucher Disease, Chitotriosidase, CHITO 7-10 days 82657, 80500 $242
Gaucher Disease, Enzyme Assay 7-10 days 80500, 82963, 84157 $263
Gaucher Disease, Gene Sequencing 6 weeks 83891, 83898 x11, 83894, 83904 x22, 83909 x22, 83912 $1,170
Gaucher Disease, Mutation Analysis 2 weeks 83891, 83892, 83901, 83905 (x16) $400
Gaucher Disease, Tartrate Resistant Acid Phosphatase, TRAP 7-10 days 82657 $147
Genetic Metabolic Panel 7-10 days for routine samples. 80500, 82017,82139, 82379, 82541, 82542, 82544 $832
Glucose-6-Phosphate Dehydrogenase Deficiency: Sequencing of the G6PD Gene 8 weeks 83891, 83898x12, 83894, 83904x24, 83909x24, 83912 $1,200
Glutaric Aciduria, Type I (GA-I) - Gene Sequencing 8 weeks Sequencing (FX): 83891x1, 83898x15, 83894x1, 83904x30, 83909x30, 83912x1 Del/Dup (NL):83890x1, 83892x2, 83894x1, 83896x15, 83897x1, 88384x1, 88385x1, 88386x1 $1,500 Sequencing (FX): 1,500 Del/Dp (NL)
Hearing Loss & Deafness - Mitochondrial 3 weeks 83891, 83892 (x2), 83894 (x2), 83898 (x2), 83912 $ 529
Hearing Loss - Connexin 26 Sequencing 4 weeks Sequencing: 83891x1, 83898x3, 83894x1, 83904x6, 83909x6, 83912x1 $475
Hearing Loss - Connexin 30 Sequencing and Common Deletion 4 weeks Sequencing: 83891x1, 83898x2, 83894x1, 83904x4, 83909x4, 83912x1 $550
Hearing Loss Panel - Comprehensive 6 weeks 83891x1, 83898x7, 83894x1, 83904x12, 83909x12, 83912x1 $1,200
Hearing Loss Panel - Connexin 26 & Connexin 30 4 weeks 83891x1, 83898x5, 83894x1, 83904x8, 83909x8, 83912x1 $700
Hearing Loss Panel - Connexin 26 & Connexin 30 Deletion/Duplication Analysis 8 weeks 83890, 83892X2, 83894, 83896X5, 83897, 88384, 88385, 88386 $1,500
Homocyst[e]ine 1 week 83090, 80500 $148
Homocystinuria: Sequencing of the cystathionine β-synthase Gene 8 weeks Sequencing (EY): 83891, 83898x18, 83894, 83904x36, 83909x36, 83912
Del/Dup (EZ): 83890, 83892x2, 83894, 83896x18, 83897, 88384, 88385, 88386 		$1,500, sequencing (EY)
$1,500 del/dup (EZ)
Huntington Disease 2 weeks 83891, 83898(x2), 83909(x2), 83912 $391
Infertility Panel, Females 3 weeks 83891, 83898, 83909, 83892, 83894, 83897, 83896, 83912, 88230, 88262, 88285, 88291 $1,343
Infertility Panel, Males 2 weeks 83891(x2), 83898(x6), 83914, 83909, 83894(x3), 83912(x2), 88230, 88262, 88285, 88291 $1,767
Isobutyryl Co-A Dehydrogenase Deficiency: Sequencing of the ACAD8 Gene 6-8 weeks 83891, 83898x12, 83894, 83904x24, 83909x24, 83912 $1,200
Isovaleric Acidemia (IVA) - Gene Sequencing 8 weeks Sequencing (HF): 83891x1, 83898x11, 83894x1, 83904x22, 83909x22, 83912x1 Del/Dup (HH):83890x1, 83892x2, 83894x1, 83896x11, 83897x1, 88384x1, 88385x1, 88386x1 $1,100 Sequencing (HF)
$1,500 Del/Dup (HH)
Kearns-Sayre Syndrome and Chronic Progressive External Ophthalmoplegia 4 weeks 83891, 83892(x3), 83894(x4), 83896, 83897(x4), 83912 $685
Ketothiolase Deficiency (BKT) - Gene Sequencing 6-8 weeks Sequencing (JE): 83891x1, 83898x18, 83894x1, 83904x36, 83909x36, 83912x1 Del/Dup (JF):83890x1, 83892x2, 83894x1, 83896x18, 83897x1, 88384x1, 88385x1, 88386x1 $1,800 Sequencing (JE)
Del/Dup (JF) $1,500
Known mutation testing 2 weeks 83891, 83898, 83904(x2), 83912 $379
Krabbe Disease - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (KR): 83891, 83898 x17, 83894, 83904 x34, 83909 x34, 83912
Del/Dup (LD):83890, 83892 (x2), 83894, 83896 (x10), 83894, 88385, 88386		 $1,807, sequencing (KR)
$1,500 del/dup (LD)
Leber Hereditary Optic Neuropathy, LHON 2 weeks 83891, 83892(x4), 83894(x3), 83898(x4), 83912 $710
Leigh Disease 3 weeks 83891, 83892(x6), 83894(x5), 83896, 83897(x4), 83898(x4), 83912, 83914(x2) $1,111
Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHAD): Sequencing of the HADHA Gene Sequencing: 8 weeks;
Deletion/duplication analysis: 8 weeks		 Sequencing (GJ): 83891, 83898x24, 83894, 83904x48, 83909x48, 83912
Del/Dup (GN): 83890, 83892x2, 83894, 83896x24, 83897, 88384, 88385, 88386 		$2,400 sequencing (GJ)
$1,500 del/dup (GN)
Lysosomal Enzyme Screening 7-10 days 80500, 82657(x9) $549
Maple Syrup Urine Disease (MSUD) - Sequencing of BCKD Complex Genes 8 weeks Sequencing (SB): 83891, 83898(x30), 83904(x60), 83912, 83894, 83909
Del/Dup (NI): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1
 $2,731, sequencing (SB)
$2,200 del/dup (NI)
Maple Syrup Urine Disease - BCKD Enzyme Assay 8-10 days from receipt of cultured cells. Lymphoblast transformation of whole blood may require 6-8 weeks. 80500, 82658, 88241 $1,050
Maple Syrup Urine Disease, Type III: Sequencing of the DLD Gene Sequencing: 8 weeks;
Deletion/duplication analysis: 8 weeks		 Sequencing (HI): 83891, 83898x23, 83894, 83904x46, 83909x46, 83912
Del/Dup (HJ): 83890, 83892x2, 83894, 83896x23, 83897, 88384, 88385, 88386 		$2,300, sequencing (HI)
$1,500 del/dup (HJ)
Marker Chromosome Identification and Characterization 3 weeks - 6 weeks depending on complexity and degree of testing required VA-83890, 83892(x2), 83894, 83896(x10), 83897, 88384, 88385, 88386, 88230
CK- 88230, 88271(x3), 88273, 88291 		$1,695-$2,495 (depending on complexity and components of testing required)
Maternal Cell Contamination 2 weeks For prenatal and cord blood testing: 83891 (x3), 83900(x), 83909 (x3), 83912;
For POC analysis only: 83891-52, 83900(x2), 83909-52(x2), 83912-52		 $401 (for prenatal and cord blood testing)
$242 (for Products of Conception analysis ONLY)
Medium Chain Acyl Co-A Dehydrogenase (MCADD) - ACADM Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (MV): 83891;
83898 (x11);
83904 (x22);
83912, 83894, 83909
Del/Dup (XF): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,597, sequencing (MV)
$2,200, del/sup (XF)
Medium Chain Acyl Co-A Dehydrogenase (MCADD) - Common Mutation Panel 1 week 83891, 83892(x2), 83894, 83898(x2) $349
Metachromatic Leukodystrophy 7-10 days 82657, 80500 $263
Metachromatic Leukodystrophy - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (AV): 83891, 83898 x8, 83894, 83904 x16, 83909x16, 83912
Del/Dup (LI): 83890x1, 83892x2, 83894x1, 83896x8, 83897x1, 88384x1, 88385x1, 88386x1		 $850, sequencing (AV)
$1,500, del/dup (LI)
Methylmalonic Acid Quantitation 1 week 80500, 83921 $158
Methylmalonic Aciduria (Cbl A, Cbl B) - Sequencing MMAA and MMAB Genes Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (MU): 83891, 83898(x15), 83904(x30), 83912
Del/Dup (NJ): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,951, sequencing (MU)
$2,200, Del/Dup (NJ)
Methylmalonic Aciduria (MMA) - Methylmalonyl CoA Mutase (MUT) Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (DH): 83891, 83898(x12), 83894, 83904(x24), 83909(x24), 83912
Del/Dup (NK): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,540, sequencing (DH)
$1.500, del/dup (NK)
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like Episodes, MELAS 2 weeks 83891, 83898, 83904(x2), 83912, 83914(x2) $527
Mitochondrial Genome Deletions (Southern Blot) 4 weeks 83891, 83892(x3), 83894(x4), 83896, 83897(x4), 83912 $685
Mitochondrial Genome Sequence Analysis 8 weeks 83891x1, 83898x48, 83894x1, 83904x96, 83909x96, 83912x1 $3,500
Mowat-Wilson Syndrome Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing and FISH (MN) 83891, 83898(x8), 83904(x28), 83912, 88230, 88271(x2), 88273, 88291
Del/Dup (KS)83890 x1, 83892 x2, 83894 x1, 83896 x8, 83897 x1, 88384 x1, 88385 x1, 88386 x1		 $2,415, sequencing and FISH (MN)
$1,500, del/dup (KS)
Mucolipidosis Type II - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BK): 83891, 83898 x21, 83894, 83904 x42, 83909 x42, 83912
Del/Dup (LJ): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $2,321, Sequencing (BK): $1,500, Del/Dup (LJ)
Mucolipodosis type IIIA - Gene Sequencing 8 weeks Sequencing (DQ): 83891, 83898 x21, 83894, 83904 x42, 83909 x42, 83912
Del/Dup (LK): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1 		$2,321, sequencing (DQ)
$1,500, del/dup (LK)
Mucopolysaccharide (MPS) Screen 7-10 days 80500, 82489, 83864, 82570 $211
Mucopolysaccharidosis Type I 7-10 days 80500, 82657 $263
Mucopolysaccharidosis Type I - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BO): 83891, 83898 x14, 83894, 83904 x28, 83909 x28, 83912
Del/Dup (LL): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,488, sequencing (BO)
$1,500, del/dup (LL)
Mucopolysaccharidosis Type II - Gene Sequencing 6 weeks 83891, 83898 x9, 83894, 83904 x18, 83909 x18, 83912 $957
Mucopolysaccharidosis Type III - Gene Sequencing Panel 8 weeks Sequencing (FQ): 83891x1, 83898x53, 83894x1, 83904x106, 83909x106, 83912x1 Del/Dup (HV):83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1 $4,000 Sequencing (FQ): $2,200 Del/Dup (HV)
Mucopolysaccharidosis Type IIIA - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (AW): 83891, 83898 x8, 83894, 83904 x16, 83909 x16, 83912
Del/Dup (HX): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $850, sequencing (AW)
$1,500, del/dup (HX)
Mucopolysaccharidosis Type IIIB - Gene Sequencing 6 weeks Sequencing (BB): 83891, 83898 x6, 83894, 83904 x12, 83909 x12, 83912
Del/Dup (HZ): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1 		$1,200, sequencing (BB)
$1,500, del/dup (HZ)
Mucopolysaccharidosis Type IIIC - Gene Sequencing Sequencing 6 weeks ;
del/dup 8 weeks		 Sequencing (FN): 83891x1, 83898x25, 83894x1, 83904x50, 83909x50, 83912x1 Del/Dup (HW):83890x1, 83892x2, 83894x1, 83896x25, 83897x1, 88384x1, 88385x1, 88386x1 $2,500 Sequencing (FN)
$1,500 Del/Dup (HW)
Mucopolysaccharidosis Type IIID - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BH): 83891, 83898 x14, 83894, 83904 x28, 83909 x28, 83912
Del/Dup (IK):83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,488, sequencing (BH): $1,500, del/dup (IK)
Mucopolysaccharidosis Type IV A - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BU): 83891, 83898 x14, 83894, 83904 x28, 83909 x28, 83912
Del/Dup (LX): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,488, sequencing (BU)
$1,500, del/dup (LX)
Mucopolysaccharidosis Type IV B 7-10 days 80500-52, 82657-22 $250
Mucopolysaccharidosis Type IV B - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BV): 83891, 83898 x16, 83894, 83904 x32, 83909 x32, 83912
Del/Dup: (LY): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1 		$1,700, sequencing (BV)
$1,500, del/dup (LY)
Mucopolysaccharidosis Type VI (Maroteaux-Lamy) - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BI): 83891, 83898 x8, 83894, 83904 x16, 83909 x16, 83912
Del/Dup (LZ): 83890x1, 83892x2, 83894x1, 83896x8, 83897x1, 88384x1, 88385x1, 88386x1		 $850, sequencing (BI)
$1,500, del/dup (LZ)
Mucopolysaccharidosis Type VII 7-10 days 80500, 82657 $263
Mucopolysaccharidosis Type VII - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BJ): 83891, 83898 x12, 83894, 83904 x24, 83909 x24, 83912
Del/Dup (NC): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,275, sequencing (BJ)
$1,500, del/dup (NC)
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) - Gene Sequencing 8 weeks Sequencing (GQ): 83891x1, 83898x56, 83894x1, 83904x112, 83909x112, 83912x1 Del/Dup (GV):83890x1, 83892x2, 83894x1, 83896x56, 83897x1, 88384x1, 88385x1, 88386x1 $4,000 Sequencing (GQ): $2,200 Del/Dup (GV)
Multiple CoA Carboxylase Deficiency (Holocarboxylase Synthetase Deficiency) - Gene Sequencing 8 weeks Sequencing (JW): 83891x1, 83898x15, 83894x1, 83904x30, 83909x30, 83912x1 Del/Dup (JX):83890x1, 83892x2, 83894x1, 83896x15, 83897x1, 88384x1, 88385x1, 88386x1 $1,500 Sequencing (JW): 1,500 Del/Dp (JX)
Myoclonic Epilepsy and Ragged-Red Fiber Disease, MERRF 2 weeks 83891, 83892(x2), 83894(x2), 83898(x2), 83914 $487
Myophosphorylase Deficiency, McArdle Disease 2 weeks 83891, 83892(x3), 83894, 83898(x3), 83912 $438
Myophosphorylase Deficiency/McArdle Disease: Sequencing of the PYGM Gene 8 weeks Sequencing (QL): 83891, 83898x20, 83894, 83904x40, 83909x40, 83912
Coming soon - Del/Dup (QM): 83890, 83892x2, 83894, 83896x20, 83897, 88384, 88385, 88386 		$1,200, sequencing (QL)
Coming soon - $1,500 del/dup (QM)
Myotonic Dystrophy 3 weeks 83891, 83892, 83894, 83896, 83897, 83898, 83909, 83912 $421
Niemann-Pick Disease Type A & B - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BY): 83891, 83898 x6, 83894, 83904 x12, 83909 x12, 83912
Del/Dup (ND): 83890x1, 83892x2, 83894x1, 83896x6, 83897x1, 88384x1, 88385x1, 88386x1		 $1,000, sequencing (BY)
$1,500, del/dup (ND)
Niemann-Pick Disease Type C - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (BZ): 83891, 83898 x30, 83894, 83904 x60, 83909 x60, 83912
Del/Dup (NE): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $2,348, sequencing (BZ)
$1,500, del/dup (NE)
Oligosaccharide Screen 7-10 days 82570, 80500, 84375 $232
Organic Acids 1 week routine, STAT 1 day. 80500, 82541, 82542, 82570 $211
Ornithine Transcarbamylase deficiency - Gene Sequencing 8 weeks Sequencing (HU): 83891x1, 83898x14, 83894x1, 83904x28, 83909x28, 83912x1 Del/Dup (ET): 83890x1, 83892x2, 83894x1, 83896x14, 83897x1, 88384x1, 88385x1, 88386x1 $1,400 Sequencing (HU)
$1,500 Del/Dup (ET)
Orotic Acid Assay 1 week 82570, 80500, 83921 $158
Pearson Marrow/Pancreas Syndrome 4 weeks 83891, 83892(x3), 83894(x4), 83896, 83897(x4), 83912 $685
Phenylketonuria (PKU) - Prenatal Testing Call lab varies varies
Phenylketonuria (PKU) - Sequencing of Phenylalanine Hydroxylase (PAH) Gene Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (SK): 83891, 83898(x13), 83904(x26), 83912, 83894, 83909
Del/Dup (XM): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $1,173, sequencing (SK)
$1,500, del/dup (XM)
Pompe Disease - Enzyme Assay 7-10 days Blood & leukocyte pellets: 80500, 82657-22, DBS: 82657, 80500 $263 (blood & leukocyte pellets-DW)
$158 (DBS-DZ)
Pompe Disease - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (AN): 83891, 83898 x20, 83894, 83904 x40, 83909 x40, 83912
Del/Dup (NF): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1		 $2,125, sequencing (AN)
$1,500, del/dup (NF)
Prader-Willi / Angelman Methylation Studies 2 weeks 83891, 83894, 83898, 83912 $369
Propionic Acidemia (PA) - Gene Sequencing 8 weeks Sequencing (KK): 83891x1, 83898x45, 83894x1, 83904x90, 83909x90, 83912x1
Del/Dup (KI):83890x1, 83892x2, 83894x1, 83896x45, 83897x1, 88384x1, 88385x1, 88386x1 		$2,000 Sequencing (KK): $1,500 Del/Dp (KI)
Retinitis Pigmentosa and Ataxia, NARP 2 weeks 83891, 83892(x2), 83894, 83898(x2), 83912, 83914(x2) $525
Rett Syndrome Sequencing of Methyl CpG-Binding Protein (MECP2) Gene Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing: (SR): 83891, 83898(x4), 83904(14), 83912, 83894, 83909
Del/Dup (KT): 83890x1, 83892x2, 83894x1, 83896x4, 83897x1, 88384x1, 88385x1, 88386x1		 $1,121, sequencing (SR)
$1,500, del/dup (KT)
Russell Silver Syndrome - H19 methylation 2 weeks 83891, 83898, 83896 x2, 83912 $369
Russell Silver Syndrome - H19 methylation & UPD7 3 weeks 83891, 83898 x3, 83904 X2, 83896 X2, 83912 $900
Sandhoff Disease - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (DA): 83891, 83898 x14, 83894, 83904 x28, 83909 x28, 83912
Del/Dup (NG): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1 		$1,488, sequencing (DA)
$1,500, del/dup (NG)
Sickle Cell Disease 2 weeks 83891, 83892(x2), 83894, 83898, 83912 $316
Spinal Muscular Atrophy 2 weeks 83894, 83898(x2), 83912, 83891 $345
Tay-Sachs Disease 7-10 days 82657, 80500 $263
Tay-Sachs Disease - Gene Sequencing Sequencing 6 weeks;
del/dup 8 weeks		 Sequencing (DD): 83891, 83898 x14, 83894, 83904 x28, 83909 x28, 83912
Del/Dup (NH): 83890x1, 83892x2, 83894x1, 83896x10, 83897x1, 88384x1, 88385x1, 88386x1 		$1,488, sequencing (DD)
$1,500, del/dup (NH)
Telomere FISH Screening Panel 10 days 88230, 88271(x3), 88273, 88291 $1,000
Trifunctional Protein Deficiency - Gene Sequencing 8 weeks Sequencing (FZ): 83891x1, 83898x45, 83894x1, 83904x90, 83909x90, 83912x1 Del/Dup (GE):83890x1, 83892x2, 83894x1, 83896x45, 83897x1, 88384x1, 88385x1, 88386x1 $4,000 Sequencing (FZ)
$2,200 Del/Dup (GE)
Twin Zygosity DNA-Based Diagnosis 2 weeks 83890(x3), 83891(x4), 83894(x4), 83912 $474
Tyrosinemia Type I - Gene Sequencing 8 weeks Sequencing (EU): 83891x1, 83898x16, 83894x1, 83904x32, 83909x32, 83912x1 Del/Dup (EV):83890x1, 83892x2, 83894x1, 83896x20, 83897x1, 88384x1, 88385x1, 88386x1 $1,600 Sequencing (EU)
$1,500 (EV)
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) - Gene Sequencing 8 weeks Sequencing (HK): 83891x1, 83898x14, 83894x1, 83904x28, 83909x28, 83912x1 Del/Dup (HN):83890x1, 83892x2, 83894x1, 83896x14, 83897x1, 88384x1, 88385x1, 88386x1 $1,400 Sequencing (HK)
Del/Dup (HN) $1,500
X-Linked Mental Retardation (XLMR): Sequencing of the SLC9A6 gene Sequencing: 8 weeks;
Deletion/duplication analysis: 8 weeks		 Sequencing (PQ): 83891, 83898x16, 83894, 83904x32, 83909x32, 83912

Del/Dup (PN): 83890, 83892x2, 83894, 83896x24, 83897, 88384, 88385, 88386 		$1,600 sequencing (PQ)
$1,500 del/dup (PN)
X-Linked Mental Retardation Deletion/Duplication Array CGH 8 weeks 83890, 83892 (x2), 83894, 83896 (x10), 83897, 88384, 88385, 88386 $2,200
Y Microdeletion Studies 2 weeks 83891, 83898(x5), 83894, 83912 $434
Y-Chromosome Analysis 2 weeks 83891, 83894(x3), 83898 (x2), 83912 $371

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