Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach

Figures & data

Table 1 Samples processed by the Mmalton allele-specific genotyping assay

Patient ID number	AAT concentrations (g/L)	Phenotype	Genotype by Mmalton allele-specific genotyping	Genotype by SERPINA1 exonic sequencing
1	0.71	M/M	M/Mmalton	Not applicable
2	0.67	M/M	Mmalton allele undetected	No additional WB sample
3	0.89	M/M	M/Mmalton	Not applicable
4	0.87	M/M	M/Mmalton	Not applicable
5	0.64	M/M	Mmalton allele undetected	M/M
6	0.73	M/S	Mmalton allele undetected	No additional WB sample
7	0.68	M/M	Mmalton allele undetected	M/Null Mattawa
8	0.76	M/S	Mmalton allele undetected	No additional WB sample
9	0.9	M/M	Mmalton allele undetected	M/M
10	0.8	M/S	Mmalton allele undetected	No additional WB sample
11	0.92	M/M	Mmalton allele undetected	No additional WB sample
12	0.9	M/M	Mmalton allele undetected	No additional WB sample
13	0.91	M/M	Mmalton allele undetected	M/M
14	0.6	M/M	M/Mmalton	Not applicable
15	0.84	M/S	Mmalton allele undetected	No additional WB sample
16	0.94	M/M	Mmalton allele undetected	M/Null Mattawa
17	0.72	M/M	Mmalton allele undetected	No additional WB sample
18	0.96	M/M	Mmalton allele undetected	M/M
19	0.96	M/M	Mmalton allele undetected	M/M
20	0.97	M/M	Mmalton allele undetected	M/M
21	0.97	M/M	Mmalton allele undetected	M/M
22	0.98	M/M	Mmalton allele undetected	M/M
23	0.71	M/M	M/Mmalton	Not applicable
24	0.98	M/M	Mmalton allele undetected	M/M
25	0.99	M/M	Mmalton allele undetected	M/M
26	0.79	M/M	Mmalton allele undetected	No additional WB sample
27	0.93	M/M	Mmalton allele undetected	No additional WB sample
28	1	M/M	Mmalton allele undetected	M/M
29	1	M/M	Mmalton allele undetected	M/M
30	1	M/M	Mmalton allele undetected	M/M
31	1	M/M	Mmalton allele undetected	M/M
32	1.01	M/M	Mmalton allele undetected	M/M
33	0.81	M/M	M/Mmalton	Not applicable
34	0.8	M/M	Mmalton allele undetected	No additional WB sample
35	1.01	M/M	Mmalton allele undetected	M/M
36	1.01	M/M	Mmalton allele undetected	M/M
37	0.83	M/M	Mmalton allele undetected	No additional WB sample
38	0.76	M/M	Mmalton allele undetected	No additional WB sample
39	1.02	M/M	Mmalton allele undetected	M/M
40	0.91	M/M	Mmalton allele undetected	No additional WB sample
41	0.46	M/S	S/Mmalton	Not applicable
42	1.02	M/M	Mmalton allele undetected	M/M
43	1.02	MM	Mmalton allele undetected	M/M
44	0.93	M/M	Mmalton allele undetected	No additional WB sample
45	0.72	M/M	M/Mmalton	Not applicable
46	1.02	M/M	Mmalton allele undetected	M/M
47	1.02	M/M	Mmalton allele undetected	M/M
48	0.9	M/M	M/Mmalton	Not applicable
49	0.65	M/M	Mmalton allele undetected	No additional WB sample

Note: Samples positive for Mmalton detection are shown in bold.

Abbreviations: AAT, alpha-1-antitrypsin; WB, whole blood.

Table 2 Mmalton heterozygote samples detected using the Mmalton allele-specific genotyping assay

Patient	Origin	AAT concentrations (g/L)	Phenotype	Genotype
1	Routine	0.71	M/M	M/Mmalton
2	Routine	0.89	M/M	M/Mmalton
3	Routine	0.87	M/M	M/Mmalton
4	Routine	0.60	M/M	M/Mmalton
5	Routine	0.71	M/M	M/Mmalton
6	Routine	0.81	M/M	M/Mmalton
7	Routine	0.46	M/S	S/Mmalton
8	Routine	0.72	M/M	M/Mmalton
9	Routine	0.9	M/M	M/Mmalton
10	Family study of patient 1	0.72	M/M	M/Mmalton
11	Family study of patient 1	0.56	M/S	S/Mmalton
12	Family study of patient 7	0.77	M/M	M/Mmalton
13	Family study of patient 7	0.86	M/M	M/Mmalton

Abbreviation: AAT, alpha-1-antitrypsin.